Affordable Access

Publisher Website

Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin

Journal of the American Academy of Dermatology
Publication Date
DOI: 10.1016/s0190-9622(87)80249-9


A genetic concept is advanced to explain the origin of several sporadic syndromes characterized by a mosaic distribution of skin defects. It is postulated that these disorders are due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in the zygote will lead to death of the embryo at an early stage of development. Cells bearing the mutation can survive only in a mosaic state, in close proximity with normal cells. The mosaic may arise either from a gametic half chromatid mutation or from an early somatic mutation. This concept of origin is proposed to apply to the Schimmelpenning-Feuerstein-Mims syndrome, the McCune-Albright syndrome, the Klippel-Trenaunay syndrome, the Sturge-Weber syndrome, and neurocutaneous melanosis. Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin).

There are no comments yet on this publication. Be the first to share your thoughts.


Seen <100 times

More articles like this

Lethal genes surviving by mosaicism: a possible ex...

on Journal of the American Academ... April 1987

Birth defects involving the spine.

on The Orthopedic clinics of Nort... April 1976

Disorganization in mice and humans and its relatio...

on American Journal of Medical Ge... Dec 31, 1997
More articles like this..