Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that reveal...

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome which is characterized by formation of neurofibromas all over the skin and various other body systems. The anaesthetic management of these patients requires attention to all possible abnormalities and associated disturbances to prevent any peri-operative complication. NF-1-associated complications of the musculoske...

Manuscript accepted for publication November 12, 2008. Abstract. Background. Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. Objective. To report the clinical findings in a series of 67 patients with tuberous sclerosis. Material and methods. This was a descriptive and observation...

BACKGROUND Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. OBJECTIVE. To report the clinical findings in a series of 67 patients with tuberous sclerosis. MATERIAL AND METHODS This was a descriptive and observational retrospective study of patients with tuberous sclerosis referr...

Neurofibromatosis, as identified by yon Recklinghausen, is an autosomal dominant, neurocutaneous syndrome, characterized by multiple neurofibromas, cafe-au-lait spots, and iris Lisch nodules.1, 2 This disorder has also been referred to as the "Elephant Man" disease, and was the subject of a play and movie depicting the life of Joseph Merrick, who suffered severely from neurofibromatosis. 2 Othe...

OBJECTIVES: The authors report a case of hypomelanosis of Ito (HI), a rare neurocutaneous syndrome with neurological and chromosomal alterations associated with cutaneous involvement and recurrent pneumonia. CASE REPORT: A male patient, age 1 year and 11 months, was admitted with bilateral bronchopneumonia to the São Vicente de Paulo Hospital. Examination revealed hypochromic maculas on the ski...

Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome and characterized by large or numerous congenital melanocytic nevi and excessive proliferation of melanin-containing cells in the leptomeninges. It is believed to be an embryonic neuroectodermal dysplasia. Patients with NCM may develop severe hydrocephalus and other neurological symptoms with extremely poor prognosis. We report an in...

Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led to pulsatile enophthalmos. Although sphenoid wing aplasia in patients with NF-1 frequently occurs as painless pulsatile exophthalmos in clinical...

The objective of this study was to introduce a method for repairing large soft-tissue defects on the foot. Distally based neuro-fasciocutaneous flaps with perforating vessels were designed along the saphenous and sural neurovascular axes. The cutaneous perforating branches of the major arteries of the lower extremities were used as pedicles, which provided a rotation arc for the cross-leg flap ...

RATIONALE Necrotizing fasciitis (NF), characterized by widespread fascial necrosis, is a rare disease in clinic. Fournier gangrene (FG) is a special type of NF involved of perineum and scrotum. To our knowledge, no article has reported on bilateral femoral posterior neurocutaneous perforater flap treating for FG. PATIENT CONCERNS A 61-year-old Chinese male complained of perineal skin necrosis...