Lipodystrophia Centrifugalis Abdominalis Infantilis: A Case in a Vietnamese Patient.

BACKGROUND: Lipodystrophia centrifugalis abdominalis infantilis (LCAI) is an uncommon dermatological condition characterized by a centrifugally expanding area of lipoatrophy involving the lower abdominal area and is frequently associated with inguinal lymphadenopathy. The average age of onset is 4 years and female individuals from Japan, China, and Korea are affected more often. OBJECTIVES: To report the first case of LCAI in a Vietnamese patient. METHODS: A complete clinical assessment was done and a biopsy from the affected area was performed. RESULTS: There was an atrophic, slightly hyperpigmented patch at the lower abdomen with prominent underlying vasculature. Inguinal lymphadenopathy was noted on the ipsilateral side. A biopsy showed a lobular panniculitis with fat necrosis and lymphohistiocytic infiltrate with scattered plasma cells and multinucleated giant cells. CONCLUSION: To our knowledge, this is the first reported case of LCAI in a Vietnamese patient.

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.