Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지

Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.

Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지

Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.

Central Trichoptilosis Associated with Trichorrhexis Nodosa and Pili Torti

A 12-year-old girl presented with a 1-week duration of hair loss associated with splitting of the hair ends and whitish dots on the occipital hairs. On microscopic examination, a longitudinal splitting of the hair shaft with reconstitution of the normal hair distal to the fracture, nodular swellings, with the appearance of broomsticks pushed into one another, at the site of whitish swellings, and the flattening and twisting of the hair shaft around the long axis were demonstrated. Minor trauma to injury-prone hair is a common cause of hair shaft defects, however the reports with the combined conditions are insufficient in the literature. We describe a patient with central trichoptilosis associated with localized trichorrhexis nodosa and pili torti.

A Case of Menkes Syndrome / 대한피부과학회지

Menkes syndrome is a rare fatal neurodegenerative disease with X-linked recessive inheritance. The clinical characteristic features are progressive neurological disturbances, arterial degeneration, connective tissue and hair abnormalities. This syndrome is a disorder of copper transport caused by mutations in a gene for a copper-transporting P-type ATPase. We have experienced a case of Menkes syndrome in an eight-month old male patient, who manifested seizure, developmental delay and characteristic pili torti. He was diagnosed by clinical features, laboratory tests such as low serum copper and ceruloplasmin level, cerebral atropy in brain magnetic resonance(MR) image and arterial abnormality in MR angiography. We review literatures and describe the distinctive features of this rare disorder.

A Case of Pili Torti / 대한피부과학회지

In pili torti, the affected Eair shaft is flattened and twisted through 180 degrees on its own axis. The involved hairs are dry, thin, brittle, and break off easily. Congenital pili torti may occur as an isolated phenomenon or may occur in association with other abnormalities. Acquired pili torti is usually associated with some sort of scarring process in the scalp itself. We present a case of congnital pili torti without any other abnormalities in a 14 year-old female. The pedigree of her fariiily was consistent with the inheritance of congenital pili torti as an autosomal dominant trait.

A Case of Pili Torti of the Post-Pubertal Type

No abstract available.