Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma

Congenital reticular ichthyosiform erythroderma.

Non-bullous congenital ichthyosiform erythroderma.

A 4-day-old neonate was brought with complaints of fissuring and peeling of skin involving almost the whole body. The neonate had generalized desquamation not even sparing the palms, soles and face. The parents informed that the baby was born, enclosed in a constricting parchmentlike membrane (collodion baby) that had gradually comeoff. There was a past history of a child born with similar pres...

ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.

Title Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia Author(s) Natsuga, Ken; Akiyama, Masashi; Kato, Naoko; Sakai, Kaori; Sugiyama-Nakagiri, Yoriko; Nishimura, Machiko; Hata, Hiroo; Abe, Masataka; Arita, Ken; Tsuji-Abe, Yukiko; Onozuka, Takashi; Aoyagi, Satoru; Kodama, Kazuo; Ujiie, Hideyuki; ...

Multicystic dysplastic kidney in association with congenital ichthyosiform erythroderma.

Multicystic dysplastic kidney is a noninherited congenital disease. Association of this disease with abnormalities of various organs is common. We, however, report a rare case of multicystic dysplastic kidney associated with congenital ichthyosiform erythroderma in an infant. Different developmental origins of the skin and the kidney can explain the scarcity of concurrent congenital skin and ki...