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Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Professor Ma Zhensheng

Every rare case is like a mysterious island, waiting for doctors to explore and decipher. Today, we're going to tell the story of an 18-year-old girl whose rare disease, pigmentary vascular nevus hamartoma, has led to heated debates about whether to wear a brace for scoliosis, whether thoracolumbar spinal stenosis is surgical, and whether to operate on the legs.

The story began on the afternoon of September 2, 2024, when Professor Li Tianqing informed me that an operation had been scheduled, and the patient was an 18-year-old woman who was diagnosed with thoracic spinal stenosis. However, this age left me with great doubts about the diagnosis and the scheduling of the surgery. I immediately went to the ward to check on the patient. When I met this girl, her face was covered with large patches of uneven pigment and full blood vessels, which was a clinical manifestation that struck me as unfamiliar. Traces of lesions can be clearly seen on the back, lower limbs, eyes, inside and around the mouth, and lower abdomen.

Since I had never seen such a situation and could not make an accurate diagnosis, I asked the doctor in charge, Wang Longchao, to consult with a dermatologist first to find out what the skin lesions were suffering from in the child. At the same time, the patient was indeed found to have thoracolumbar spinal stenosis, but no clear signs of nerve injury were found during physical examination, muscle strength was normal, and pathological reflexes were not elicited. I ask my child and parents to walk outside the ward and observe the distance of continuous rapid walking in order to decide whether to have surgery the next day. In addition, I also ask the parents to record the child's condition and the treatment process in detail, so that we can have a more comprehensive understanding of the patient's condition and diagnosis and treatment process.

At the end of the afternoon, Dr. Wang Longchao told me that my child could walk 2.81 kilometers without rest. Based on this, I decisively suggested to Professor Li Tianqing and Dr. Wang Longchao that the operation should be suspended first and the examination should be further improved, because this thoracolumbar spinal stenosis is not in a hurry to do surgery. Considering the complexity of the child's condition, in order to make up for our lack of understanding of the disease, we decided to let the child continue to be hospitalized, and further consult the relevant departments, consult the relevant literature, and learn the relevant knowledge of the disease in depth.

It is known that the patient has had large flakes of "birthmarks" on his face and trunk and limbs since birth, and black Ota nevi in his eyes and face. These lesions appear gradually between the months of birth and 1 year of age, and over time they become larger and darker. At birth, the upper limbs are thick on one side and thin on the other. Unequal length of the lower limbs is found at age 4 to 5 years, and it is more pronounced at age 11 to 12 years. With age, the length of the legs and the knee valgus gradually worsen. At the age of 1-2 years, the patient went to Beijing Children's Hospital and was diagnosed with "congenital hemangioma", also known as "hyperosteopathic vascular nevus". The different thickness of the upper limbs is related to the thickness of the blood vessels on one side of the body, the thin blood vessels on the other side, and the inconsistency of nutrient absorption, resulting in different thicknesses. The patient's skin lesions had been treated with "laser treatment", but the results were not good and the patient felt very painful, so the treatment was abandoned.

On or about June 25, 2024, the patient developed severe pain in the lower back, located above the buttocks, which lasted for 1-2 weeks and then radiated down to the popliteal fossa, throbbing, stabbing pain. There is also a tingling sensation on the back of the thigh, posterolateral calf, a VAS score of 5, and sometimes numbness. Tingling pain occurs when coughing, sneezing, bending over, lying down, getting up, and sitting up, and occasionally on the sides of the knee when exerting force. The pain is more severe when he rolls over in sleep, with a VAS score of 8, and he is often woken up in pain in the middle of the night. It doesn't hurt when walking, but the patient needs to take painkillers to relieve the pain. If you don't take painkillers, the pain will be more intense, up to 1 - 10 times per hour. Patients can stand for up to 1 to 2 hours while standing, sit for up to 40 minutes, and develop throbbing pain in both lower extremities after 40 minutes. You can only sleep for 2 hours at night, after which you wake up in pain. The pain is obvious in the morning, the fear of cold and the air conditioner are blown, the pain is aggravated when it rains on a cloudy day, and the pain will also be aggravated after being cold. After 2.81 kilometers of continuous walking, there will be convulsions and numbness in both lower limbs.

The patient presented to a local hospital and radiographs showed "scoliosis". From the X-rays of the lumbar spine taken by the local hospital, the patient did have scoliosis, lumbar kyphosis, pelvic tilt, etc. However, from the full-length anterolateral x-ray of the standing spine, scoliosis and kyphosis are not serious, or even say that there is no scoliosis, but lumbar kyphosis is present, but it is not serious. Pelvic tilt is relieved in the standing position. Personally, I don't think that for mature adults, this scoliosis and kyphosis do not require special treatment. Wearing a brace does not provide orthopaedic benefit, and it is not therapeutic.

On July 11, 2024, the patient came to our outpatient clinic with the numbers of Professor G and Professor H. According to the X-rays examined by the local hospital in Pingliang, both professors diagnosed scoliosis, but their opinions on the wearing of braces were not unanimous. One recommends wearing it only every night while you sleep, and the other recommends that you need to wear it 23 hours a day. It was summer, the weather was very hot, and after wearing the brace, the patient caught a cold due to sweating a lot and getting cold from the wind. During my rounds, the patient was coughing incessantly. After questioning the patient's mother, it was learned that it was caused by sweating and catching a cold while wearing a brace. So I told them not to wear a brace anymore.

On the same day, the patient went to Xi'an North Hospital for treatment, which diagnosed lumbar disc herniation and recommended a lumbar MRI examination. Examination results show disc herniation in thoracic 12-lumbar 1 and lumbar 1-2, spinal stenosis, thoracolumbar kyphosis, flattening of the thoracic 10-lumbar 4 vertebrae as far as the visual field can reach, narrow anteriorly and wide posteriorly, and vertebral dysplasia. But judging by the cross-sectional scan, spinal stenosis is not severe.

On August 1, 2024, the patient came to Professor G's outpatient clinic again and was diagnosed with lumbar disc herniation, scoliosis, and lumbar muscle strain, and was treated symptomatically. On August 28, 2024, Professor Li Tianqing was diagnosed with thoracic 12-lumbar 2 intervertebral disc herniation and thoracic 12-lumbar 2 spinal stenosis and was admitted to the hospital.

After admission, physical examination revealed that the patient had mild claudication, multiple bright red spots and scattered hemorrhage points on the skin of the whole body, involving the bulbar conjunctiva and oral mucosa. The right side of the face, upper limbs, trunk, and lower limbs are larger and thicker than those on the left side, the length of the lower limbs is unequal, the muscle strength of the limbs is normal, and the movement of the lumbar spine is not restricted.

After admission, the examination was further improved, including anteroposterior pelvic X-ray, anterolateral x-ray of the lumbar spine, full-length anterolateral x-ray of the spine in standing position, and CT of thoracolumbar spine. Laboratory tests showed normal liver and kidney function, six ions, and blood glucose, and thyroidine T3 and vitamin D deficiency as well as thyroidine T3. Abdominal ultrasonography showed no abnormalities in the abdominal organs, cardiac ultrasonography showed a small amount of pericardial effusion, and lower extremity vascular ultrasound showed that the saphenous vein on the medial aspect of the right calf was branchically dilated. Bone density testing is normal. X-rays of the full-length anterolateral view of both lower extremities in the standing position show unequal length of both lower extremities.

After the examination, the Department of Dermatology and the Department of Immunology were consulted, and the diagnosis was made as pigmentary vascular nevus hamartoma. There is no specific treatment for the skin after a definitive diagnosis. Immunological consultation excludes rheumatic immune disease.

On September 12, 2024, a case discussion was held with the team of Professor Luyu Huang from the Department of Pediatric Orthopedics. Prof. Huang Luyu and Prof. Xu Huifa believe that although the patient has spinal stenosis in the thoracolumbar segment, there is no sign of nerve damage in the lower limbs, and he can walk continuously for 2.81 kilometers, so he is not eligible for surgery. The patient walks with a claudication, which is caused by the unequal length of the lower limbs, and the downwind knee (right knee valgus, left knee varus, right X-shaped leg, left O-shaped leg). The right lower limb is 1 cm longer than the left lower limb, and the left upper tibia side osteotomy and orthopedic knee valgus should be performed on the left tibia, and the right lower femur medial osteotomy should be corrected for knee valgus to solve the problem of unequal length of both lower limbs and downwind knees, so that the patient's walking gait and pelvic tilt can be improved.

After the discussion, the patient and his family were communicated, and the patient and his family chose not to consider surgery for the time being, and were discharged. Personally, I consider that although the patient's bone mineral density is normal, his condition is rare and complex, and the pain manifestations are mainly low back and leg pain, rest pain, nocturnal pain, posture change pain, sensitivity to cold, fear of blowing air conditioning, aggravated by cloudy days and rain, and laboratory tests suggest vitamin D deficiency. Therefore, it is recommended to take Alendronate sodium tablets and alfacalciferol tablets to try anti-osteoporosis treatment, and recheck after one month. I also wrote a detailed outpatient medical record for the patient, and informed the patient and his family that if they want to go to other hospitals, they can send the outpatient medical records I wrote to the doctors in other hospitals for reference, so that they can obtain case information more conveniently.

However, when I was discharged from the hospital, the patient's family did not buy the medicine I recommended and did not know if they had followed the doctor's instructions to try anti-osteoporosis treatment after discharge.

In this case, from the diagnosis of scoliosis in the hospital, to the diagnosis of scoliosis and kyphosis in the outpatient clinic of our hospital, the treatment with braces, and then to the admission of thoracolumbar spinal stenosis to arrange surgery, and then considering the unequal length of both lower limbs and downwind knees, it was recommended to have osteotomy surgery around the knee joint, and I recommended a trial of anti-osteoporosis treatment, during which there were many variables. The clinical experience and limitations of each doctor are reflected, and the importance of a sound system of ward rounds and a system of discussion between different professional groups is highlighted.

Since the establishment of the department in 1955 by Professor Lu Yupu, our department has always adhered to the general practice case discussion system, which has benefited me a lot and provided a good institutional guarantee for my medical safety. I have always insisted on bringing out difficult cases for discussion, not only in our department, but also in the whole country, which has broadened my horizons and learned more knowledge.

On the road of medicine, every rare case is a challenge and an opportunity to learn. The 18-year-old's rare disease was met with mixed opinions by numerous professors, reflecting the complexity and uncertainty of medicine. In the face of such cases, we need to give full play to the advantages of multidisciplinary collaboration, integrate the opinions of all parties, and make decisions carefully. At the same time, we should also continue to learn and explore, improve our professional level, and provide better medical services for patients.

I hope that more orthopedic colleagues will take the initiative to share their difficult cases, discuss with everyone, and make progress together. Only through continuous communication and cooperation can we better deal with various rare diseases and difficult cases and protect the health of patients.

In this case, we see the dilemma of medicine, but also see hope. The dilemma lies in the lack of understanding of rare diseases and the uncertainty of treatment options. The hope lies in the power of multidisciplinary collaboration and the spirit of continuous exploration among doctors. I believe that in the future, with the continuous development of medicine, we will be able to better deal with various rare diseases and bring more hope to patients.

Attached information:

18-year-old girl, rare disease pigmentary vascular nevus hamartomatosis, several professors have different opinions, scoliosis wearing a brace? Thoracolumbar spinal stenosis surgery? Leg surgery too? Who is right and who is wrong?

18-year-old girl, rare disease pigmentary vascular nevus hamartomatosis, several professors have different opinions, scoliosis wearing a brace? Thoracolumbar spinal stenosis surgery? Leg surgery too? Who is right and who is wrong?

On the afternoon of September 2, 2024, Professor Li Tianqing told me that there was an operation, and an 18-year-old female patient with thoracic spinal stenosis asked me to see if surgery was needed.

This age made me immediately put a big question mark on this diagnosis and surgical arrangement, and hurried to the ward to see the patient.

When I went to see the patient in the ward, I saw that the child's face was covered with large patches of uneven pigment and blood vessels.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 1. Back appearance

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 2. Front view of both lower limbs

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 3. Back view of both lower limbs

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 4. Eye appearance

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 5. Appearance in and around the mouth

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 6. Appearance of the lower abdomen

The patient had large patchy lesions on the face and chest, and in order to protect the patient's privacy, the appearance photos were omitted here.

I personally have never seen this kind of clinical manifestations, and I will not diagnose it, so I told the doctor in charge Wang Longchao that I should first ask for a dermatology consultation to understand what the skin lesions of the child are, and there is indeed thoracolumbar spinal stenosis on the radiograph, and there is no clear neurological injury on physical examination (muscle strength is normal, and the pathological reflex is not eliminated), ask the child and parents, and say that there is no intermittent claudication, and tell the child's parents to take the child to walk outside the ward to see how far a continuous and rapid walk can go, and then decide whether to operate the next day. Parents are also asked to write down their child's condition and the process of seeing a doctor, so as to understand the patient's condition and diagnosis and treatment process in more detail.

When I was about to leave work in the afternoon, Dr. Wang Longchao told me that my child could continue to walk 2.81 kilometers without resting. I told Professor Li Tianqing and Dr. Wang Longchao that the operation should be stopped first, and the examination should be further improved, and this thoracolumbar spinal stenosis should not be in a hurry to be operated.

In view of the complexity of the child's condition, and in order to make up for our own lack of understanding of the disease, let the child continue to be hospitalized, and further consult the relevant departments, consult the relevant literature, and learn the relevant knowledge of the disease.

Since birth, the patient has large patches of "birthmarks" on the face and trunk and limbs, and black Ota nevi on the inside of the eyes and face. It appears gradually from a few months of age to 1 year of age, increasing in size and darkening over time. At birth, the upper limbs are thick on one side and thin on the other. Unequal length of the lower limbs is found at 4-5 years of age, and it is more pronounced at 11-12 years of age. With age, the length of the legs and the knee valgus gradually worsen. When he was 1-2 years old, he went to Beijing Children's Hospital for treatment and was diagnosed with "congenital hemangioma", also known as "hyperosteopathic vascular nevus", and the thickness of the upper limbs is related to the thickness of the blood vessels on one side of the body, the blood vessels on one side, and the different nutrient absorption, resulting in different thicknesses. The skin lesions were treated with "laser therapy", but the effect was not good, and the patient felt very painful, so he gave up.

Around June 25, 2024, the patient had severe pain in the lower back (above the buttocks) that lasted for 1-2 weeks and then radiated downward to the popliteal fossa, throbbing and stinging. Tingling sensation on the back of the thigh, posterior lateral side of the calf, VAS score of 5, sometimes numbness, coughing, sneezing, bending over, lying down, getting up, sitting up and changing positions, and occasionally stabbing pain on both sides of the knee with exertion. It hurts more to sleep and turn over, with a VAS score of 8 points, and I am often woken up in pain in the middle of the night, and it doesn't hurt to walk. Pain medication is needed to relieve pain. Without painkillers, the pain will be more intense, 1-10 times per hour. You can stand for up to 1-2 hours when standing, and you can hold the sitting position for up to 40 minutes, after which the lower extremities cramp for 40 minutes. I can sleep for 2 hours at night, and then wake up in pain. Pain in the morning, fear of cold and fear of blowing air conditioner, aggravation of pain in rain on cloudy days, and aggravation after cold. Continued to walk for 2.81 km, and developed convulsions and numbness in both lower limbs.

The patient presented to a local hospital and was photographed showing "scoliosis".

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 7. 20240704 Pingliang Meinian is healthy and has a positive and lateral position of the lumbar spine

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 8. 20240704 Pingliang Tiantai Hospital's lumbar anterolateral X-ray examination report showed that the lumbar spine was slightly convex to the left, the curvature became straight, and the occult sacral bifida was occult.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 9. 20240704 Pingliang Meinian is a full-length anterolateral X-ray of the spine in a healthy standing position

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 10. 20240704 X-ray of the full-length standing spine in the Affiliated Hospital of Gansu Medical College, the S-shaped curvature of the vertebral body was reported to diagnose scoliosis.

On July 11, 2024, the patient came to our hospital for outpatient treatment with the numbers of Professor G and Professor H. According to the X-ray examination of the local hospital in Pingliang, the diagnosis of scoliosis was recommended, and it was recommended to wear a brace for treatment, and the two professors provided patients and their families with different opinions on brace wearing, one recommended to wear it only when sleeping at night, and the other recommended to wear it 23 hours a day. It was summer, very hot, after the patient wore the brace, because the weather was too hot, sweating more, and the wind blew and caught a cold, when I was doing rounds, the patient coughed constantly, and asked the patient's mother, saying that it was caused by sweating and cold while wearing the brace, so I told them that they would not wear the brace.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 11. Professor 20240711 G's outpatient electronic medical record, diagnosed lumbar intervertebral disc herniation, congenital lumbosacral fissure, lumbar facet joint disorder. Symptomatic treatment with drugs is given, and MRI of the lumbar spine is recommended.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 12. Professor 20240711 H outpatient electronic medical records, diagnosed lumbar spinal stenosis, thoracolumbar kyphosis, and recommended wearing a brace for treatment.

Judging from the ortholateral X-rays of the lumbar spine taken in the outer hospital, the patient does have scoliosis, lumbar kyphosis, and pelvic tilt, but from the full-length ortholateral X-rays of the standing spine, scoliosis and kyphosis are not serious, and it can be said that there is no scoliosis, but there is indeed lumbar kyphosis, but it is not serious. Pelvic tilt is relieved in the standing position. Personally, I believe that for mature adults, this scoliosis and kyphosis do not require special treatment, and wearing a brace does not benefit from orthopedics, and there is no therapeutic value in wearing a brace in this case.

On the same day, the patient went to Xi'an North Hospital for treatment, which diagnosed lumbar intervertebral disc herniation and recommended a lumbar MRI examination.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 13. 20240711 the MRI application form for outpatient diagnosis of lumbar disc herniation in Xi'an North Hospital, this situation may also be due to the fact that the MRI examination in our hospital needs to make an appointment and queue, and the patient goes to the hospital for examination by himself.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 14. 20240711 Xi'an North Hospital lumbar spine MRI01, showed that the intervertebral disc herniation of thoracic 12-lumbar 1 and lumbar 1-2, spinal stenosis, thoracolumbar kyphosis, flattening of the thoracic 10-lumbar 4 vertebrae within the visual field, narrow anterior and wide back, and vertebral dysplasia.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 15. 20240711 the lumbar spine MRI02 of Xi'an North Hospital, showed that the intervertebral disc herniation of thoracic 12-lumbar 1 and lumbar 1-2, spinal stenosis, thoracolumbar kyphosis, flattening of the thoracic 10-lumbar 4 vertebrae within the visual field, narrow anterior and wide back, and vertebral dysplasia.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 16. 20240711 lumbar MRI03 of Xi'an North Hospital

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 17. 20240711 Lumbar MRI04 of Xi'an North Hospital

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 18. 20240711 lumbar spine MRI05, cross-sectional scan, spinal stenosis is not serious.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 19. 20240711 lumbar spine MRI06, cross-sectional scan, spinal stenosis is not serious.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 20. 20240801G Professor outpatient medical records, diagnosis of lumbar disc herniation, scoliosis, lumbar muscle strain, symptomatic treatment.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 21. 20240828 the outpatient electronic medical records of Professor Li Tianqing, he was diagnosed with thoracic 12-lumbar 2 intervertebral disc herniation and thoracic 12-lumbar 2 spinal stenosis, and was admitted to the hospital.

Physical examination after admission: mild claudication, multiple bright red spots and scattered hemorrhagic spots on the skin of the whole body, involving the bulbar conjunctiva and oral mucosa. The right side of the face, upper limbs, trunk, and lower limbs are all larger and thicker than those on the left side, the length of the two lower limbs is unequal, and the muscle strength of the limbs is normal. There is no restriction on lumbar spine movement.

Further refinement of the examination after admission:

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 22. 20240831 anteroposterior pelvic X-ray of Xijing Hospital, showing pelvic tilt and lumbar scoliosis.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 23. 20240831 X-ray of the lumbar spine in the anterolateral position of Xijing Hospital, it showed that the lumbar kyphotic deformity was not serious.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 24. 20240831 full-length orthostatic X-ray of the standing spine in Xijing Hospital, it shows pelvic tilt and scoliosis, but it is mild and not serious. This scoliosis should be considered to be unequal length of the lower extremities, pelvic tilt, postural malposition, and compensatory scoliosis.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 25. 20240831 Xijing Hospital, the full-length lateral X-ray of the standing spine showed mild kyphosis of the lumbar spine, straightening of the thoracic curvature, disappearance of physiological kyphosis, straightening of the curvature of the cervical spine, and mild kyphosis.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 26. 20240831 thoracolumbar spine CT01 in Xijing Hospital, suggesting thoracolumbar spinal stenosis.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 27. 20240831 thoracolumbar spine CT02 in Xijing Hospital, suggesting thoracolumbar spinal stenosis.

Laboratory tests of liver and kidney function, six ions, and blood glucose were normal, and thyroid function tests showed that triiodothyronine T3, triiodothyronine fT3 and thyroglobulin Tg were reduced, and vitamin D was deficient.

There was no abnormality in the abdominal cavity organs on abdominal ultrasound, cardiac ultrasound showed a small amount of pericardial effusion, and lower extremity vascular ultrasound showed that the saphenous vein on the medial side of the right calf was branched and dilated.

Bone density testing is normal.

X-rays of the full-length anterolateral view of both lower extremities in the standing position show unequal length of both lower extremities.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 28. 20240903 full-length orthoposterior X-ray of the patient in the standing position of both lower limbs in Xijing Hospital (please ask Xu Huifa to measure it in the Department of Pediatric Orthopedics)

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 29. 20240903 Xijing Hospital, standing position, full-length lateral X-ray of both lower limbs

MRI of cervical spine and thoracic spine showed no obvious intervertebral disc herniation and spinal stenosis.

After the examination, the Department of Dermatology and the Department of Immunology were consulted, and the diagnosis was made as pigmentary vascular nevus hamartoma. There is no specific treatment for the skin after a definitive diagnosis. Immunological consultation excludes rheumatic immune disease.

On September 12, 2024, a case discussion was held with the team of Professor Huang Luyu of the Department of Pediatric Orthopedics.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 30. 20240912 Case Discussion - Prof. Luyu Huang and Prof. Huifa Xu measure the length and angle of the lower limb

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 31. 20240912 Case Discussion - Prof. Luyu Huang and Prof. Huifa Xu measure the length and angle of the lower limb

Professor Huang Luyu and Professor Xu Huifa believed that although the patient had spinal stenosis in the thoracolumbar segment, there was no sign of nerve damage in the lower limbs, and he could walk continuously for 2.81 km, so he did not have the indication for surgery, and the patient's walking claudication was caused by the unequal length of the lower limbs and the downwind knee (right knee valgus, left knee varus, right X-shaped leg, left O-shaped leg, see Figure 28). The right lower limb is 1cm longer than the left lower limb, and the left upper end of the tibia should be osteotomy and orthopedic knee valgus, and the lower end of the right femur should be osteotomy and orthopedic knee valgus to solve the problem of unequal length of both lower limbs and downwind knee, so that the patient's walking gait and pelvic tilt can be improved.

After the discussion, the patient and family were contacted, and the patient and family chose not to consider surgery for the time being. Discharge. Then I myself carefully wrote an outpatient medical record for the patient.

Controversy and exploration of a rare disease in 18-year-old girls: pigmentary nevus haartomatosis

Figure 32. 20240912 my outpatient medical records

Personally, I consider that although the patient's bone mineral density is normal, his condition is rare and complex, and his pain manifestations are mainly manifested as: low back and leg pain, resting pain, night pain, posture change pain, sensitivity to cold, fear of blowing air conditioner, aggravated when it rains on cloudy days, and laboratory tests indicate vitamin D deficiency, so it is recommended to take alendronate sodium tablets and alfacalciferol tablets to try anti-osteoporosis treatment, and recheck one month later. I also wrote a detailed outpatient medical record for the patient, and told the patient and his family that if they want to go to other hospitals, they can give the outpatient medical records I wrote to the doctors in other hospitals for reference. From the point of view of obtaining case information, it will be more convenient.

When I was discharged from the hospital, the patient's family did not buy the medicine I recommended and did not know if they had tried anti-osteoporosis treatment as prescribed by the doctor after discharge.

My treatment plan wasn't necessarily right, but I should be the most serious.

In this case, from the diagnosis of scoliosis in the outer hospital, to the diagnosis of scoliosis, kyphosis and brace treatment in our hospital, to the admission and arrangement of surgery for thoracolumbar spinal stenosis, to the unequal length of both lower limbs, downwind knee, the recommendation of osteotomy around the knee joint, and my recommendation to try out anti-osteoporosis treatment, there are many variables during the period, the clinical experience and limitations of each doctor are reflected, and it also shows how important it is to have a perfect ward round system and a discussion system between different professional groups.

Since the establishment of Professor Lu Yupu in 1955, our department has always adhered to the general practice case discussion system, which has benefited me a lot and provided a good institutional guarantee for my medical safety. I have always insisted on bringing out difficult cases for discussion, not only in our department, but also in the whole country to ask for help and discuss, which has broadened my horizons and learned more knowledge.

I also hope that more orthopedic colleagues will take the initiative to share their difficult cases, discuss with everyone, and make progress together.

Bibliography:

1. Patricia Convalexius, Thomas A Luger, Markus Böhm. Congenital telangiectatic und pigmented lesions associated with lymphedema, difference in leg length, and scoliosis. J Dtsch Dermatol Ges.2017 Jul; 15(7):751-753. doi: 10.1111/ddg.13075. Epub 2017 Jun 14. Case Reports.

2. Montse Fernández-Guarino, et al. Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. J Am Acad Dermatol. 2008 Jan; 58(1):88-93. doi: 10.1016/j.jaad.2007.08.012. Epub 2007 Nov 28. Review.

3. Abhijit Dutta, et al. Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients. Indian J Dermatol. 2019 May-Jun; 64(3):217-223. doi: 10.4103/ijd. IJD_385_18.

4. Naveen K Kansal, et al. Phakomatosis Pigmentovascularis with Atypical Sturge-Weber Syndrome, Glaucoma and Asymptomatic CNS Microcirculation Aberrations. Indian J Dermatol. 2022 Sep-Oct; 67(5):608-610. doi: 10.4103/ijd.ijd_34_21.

5. Akash Kumar, et al. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Am J Med Genet A. 2019 Jun; 179(6):966-977. doi: 10.1002/ajmg.a.61134. Epub 2019 Mar 28. Review.