Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa; hair shaft abnormalities tend to present later. The disorder is caused by loss-of-function mutations in the SPINK5 (serine protease ...

KLK5: kallikrein 5 NS: Netherton syndrome PAR2: protease-activated receptor 2 SPINK5: serine protease inhibitor Kazal type 5 Th: helper T cell TNF: tumor necrosis factor TSLP: thymic stromal lymphopoietin INTRODUCTION Netherton syndrome (NS), also known as Com elNetherton syndrome, was clinically described in 1964 by Wilkinson et al and is characterized by the triad of ichthyosis linearis circu...

RATIONALE Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She...

We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of var...

Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggestive of trichorrhexis nodosa. With advancing age, moderate global developmental delay, susceptibil...

Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...