Naslov
Focal dermal hypoplasia (Goltz syndrome): family case report with affected mother and two stillborn daudhters

Autori
Canki-Klain, Nina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Second Eastern European Conference on Rare Diseases and Orphan Drugs. FOSTERING RESEARCH ON RARE DISEASES IN EASTERN EUROPEAN COUNTRIES diseases in Eastern European / - : Www.conf2006.raredis.org, 2006

Skup
SECOND EASTERN EUROPEAN CONFERENCE ON RARE DISEASES AND ORPHAN DRUGS. FOSTERING RESEARCH ON RARE DISEASES IN EASTERN EUROPEAN COUNTRIES

Mjesto i datum
Plovdiv, Bugarska, 08.09.2006. - 09.09.2006

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Focal dermal hypoplasia; Goltz syndrome; family study; mosaicism; X-inactivation; X-linked disorder; clonal expansion

Sažetak
INTRODUCTION. Goltz syndrome is a rare mesoectodermal dysplasia with multisystem involvement. Patient suffers from skin, skeletal, dental, ocular and other anomalies. Although the mutated gene has not been identified, there is predominance in affected females, suggesting X linked dominant inheritance with lethality in men who are hemizygous for the X chromosome. PATIENTS. We describe a family in which affected mother with one apparently normal daughter was undiagnosed until the birth of severely affected female stillborn of 34 weeks gestation. The diagnosis was confirmed by the second very malformed stillborn daughter of 25 weeks gestation. Clinical features of the mother were characterized by typical „ lobster claw“ deformity of the right hand, ectrodactily of right foot, typical cutaneous lesions with rather asymmetrical distribution, and upper median incisors spacing. Stillborns had diffuse distribution of typical skin lesions, ectrodactily, exomphalos, microphthalmia and anophthalmia, dysmorphic face with malformed pinnae and micrognathia. DISCUSSION. Reported family seems interesting because „ mildly“ affected mother with rather asymmetrical (right sided, as majority of reported cases) lesions' distribution could be somatic and germ line mosaic for an X-linked dominant mutation which would explain her less severe phenotype in comparison with two very malformed female stillborns. Unavailable mother's family study does not permit the exclusion of transmitted mutation. In CONCLUSION. The extraordinary variable expressivity of X-linked disorders should be explained by multiple mechanisms including skewed X-inactivation, clonal expansion, cell autonomous expression and somatic mosaicism that can result in disease expression in females.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA