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Abstract #46865 Published in IGR 13-3
Skin and hair manifestations of neurologic diseases: Rare features
Sonmez FMEuropean Journal of Paediatric Neurology 2011; 15: S23
Many disorders have a combination of neurologic, hair and dermatologic findings. We collected some rare examples of neurocutaneous manifestations and wish to discuss differential diagnosis. Case 1: 4.5 year old boy diagnosed with cataracts, mentalmotor deterioration, growth retardation, progeric face, and generalised spasticity when 3 months old. Intracranial calcifications and leukodystrophy developed at 6-7 months. Metabolic investigations were normal. Molecular genetic analyses were performed. Case 2: 7 year old girl presented with recurrent infections, ichtyosis, short and sparse hair, growth and mental retardation, nystagmus, increased deep tendon reflexes. Her sister has similar symptoms. Brain MRI revealed diffuse increased signal intensity in white matter. Microscopic examination of the hair revealed a typical pattern. Case 3: 14-year-old girl has chronic ligneous conjunctivitis, gingival hypertrophy, hypertension, focal convulsions, hydrocephalus, renal focal glomerulosclerosis, hypoalbuminemia, hyperlipidemia. Mesenteric biopsy showed deposition of fibrinoid material. Case 4: A 3-month-old girl has left hemiparesis, bilateral glaucoma with left buphthalmos, bilateral facial nevus flammeus, and blue spotted cutaneous lesions over the trunk and extremities. Cranial CT showed temporo-occipital calcifications and right hemispheric atrophy. Brain MRI demonstrated diffuse pial enhancement on the right hemisphere and left temporo-occipital area. Case 5: 13-year-old girl has a history of progressive cutaneous lesions on the anterior part of the right arm beginning at 40 days of life. Her father and paternal aunt had subcutaneous nodules. Physical examination revealed hard, non-tender, ossified subcutaneous nodules and plaques on the upper extremity, and movement limitation of arms and shoulders.
F.M. Sonmez. Karadeniz Technical University, Faculty of Medicine, Dept. of Child Neurology, Trabzon, Turkey.
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
