Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality. Disease data Klasyfikacja Malformation syndrome Synonimy Bloch-Siemens syndrome Zespół Blocha i Simonsa Zespół Blocha i Sulzbergera Bloch-Sulzberger syndrome Kod ORPHA 464 Kod OMIM 308300 Kod ICD10 Q82.3 Kod ICD11 LD27.00 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl