RESUMO
Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Cabelo/anormalidades , Sindactilia/diagnóstico , Síndrome de Waardenburg/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Criança , Anormalidades do Olho/genética , Feminino , Humanos , Índia , Masculino , Linhagem , Sindactilia/genética , Síndrome de Waardenburg/genéticaRESUMO
Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.
Assuntos
Síndrome de Waardenburg/diagnóstico , Síndrome de Waardenburg/genética , Criança , Surdez/diagnóstico , Surdez/genética , Feminino , Humanos , Linhagem , Síndrome de Waardenburg/classificaçãoRESUMO
Vitiligo reflects a systemic process that has important implications beyond the skin. These include other autoimmune diseases and ocular and neurological abnormalities. Alezzandrini syndrome and Vogt-Koyanagi-Harada syndrome particularly exemplify this relationship. In addition, vitiligo may be confused with other systemic disorders, including tuberous sclerosis, progressive systemic sclerosis (scleroderma), melanoma, and, in endemic regions, leprosy. We describe these associations and emphasize the importance of depigmenting disorders.
Assuntos
Vitiligo/etiologia , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Humanos , Transtornos da Pigmentação/diagnóstico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Síndrome de Waardenburg/complicações , Síndrome de Waardenburg/diagnósticoRESUMO
A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting the upper parts of the trunk, both arms and forearms. The nasal root was hypertrophied, but there was a lack of lateral displacement of medial canthi. We report this case of Waardenburg syndrome type 2 (WS 2). As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition.