A Case of Multiple Lentigines Sydrome with a Family History of Multiple Lentigines / 대한피부과학회지
Korean Journal of Dermatology
; : 1581-1584, 2004.
Article
em Ko
| WPRIM
| ID: wpr-122621
Biblioteca responsável:
WPRO
ABSTRACT
Multiple lentigines syndrome is an autosomal dominant disorder of variable penetrance and expressivity. LEOPARD has been used to describe the main features of the syndrome, including lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness. We describe a case of multiple lentigines syndrome with a family history of multiple lentigines. A 15-year-old boy presented with multiple brown macules and patches on the whole body, which had developed since the age of 3. He also had hypertrophic cardiomyopathy, EKG abnormalities and retarded growth. His maternal grandfather, maternal uncle and mother also presented with multiple brown macules scattered over the body. The biopsy specimen taken from the macule revealed elongated rete ridges, increased melanin deposition and increased number of melanocytes.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Estenose da Valva Pulmonar
/
Biópsia
/
Cardiomiopatia Hipertrófica
/
Penetrância
/
Surdez
/
Síndrome LEOPARD
/
Panthera
/
Eletrocardiografia
/
Genitália
/
Hipertelorismo
Limite:
Adolescent
/
Humans
/
Male
Idioma:
Ko
Revista:
Korean Journal of Dermatology
Ano de publicação:
2004
Tipo de documento:
Article
País de publicação:
COREA DEL SUR
/
COREIA DO SUL
/
KR
/
SOUTH KOREA