RESUMO
Focal dermal hypoplasia or Goltz syndrome is a rare X-linked genodermatosis characterized by cutaneous and musculoskeletal defects. Dermoscopy is a noninvasive auxiliary method for the diagnosis of lesions, whether melanocytic or not. Its widespread use in dermatology is resulting in the description of new patterns and characterization of lesions not reported before its use. A typical case of Goltz syndrome presenting multiple malformations was observed and submitted to dermoscopy. Dermoscopy findings of the papillomas in raspberry form in the perioral and ocular regions, revealed a unique vascular pattern, different from viral warts; dermoscopy of some brownish maculas resembling lentigo in the periphery of skin atrophic areas are described as lentigo-like lesions, an uncommon pattern of melanocytic lesions, but without criteria suggestive of malignancy.
Assuntos
Dermoscopia , Hipoplasia Dérmica Focal/diagnóstico , Feminino , Hipoplasia Dérmica Focal/patologia , Humanos , Adulto JovemRESUMO
BACKGROUND: The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. METHODS: Genomic DNAs were isolated for sequencing of the TWIST2 gene. The clinical features and inheritance of all previously reported FFDD patients were reviewed. RESULTS: The affected sibs were homozygous for a novel TWIST2 frameshift mutation, c.168delC (p.S57AfsX45). Notably, both parents and two heterozygous sibs had distichiasis and partial absence of lower eyelashes. The FFDD subtypes were reclassified: the 'Brauer-Setleis' phenotype (autosomal dominant with variable expressivity) as FFDD type II; and patients with preauricular lesions as a new subtype, FFDD type IV. CONCLUSIONS: FFDD type III heterozygotes with TWIST2 mutations may have syndromic manifestations. Review of previous FFDD patients resulted in reclassification of the subtypes.
Assuntos
Hipoplasia Dérmica Focal/genética , Mutação da Fase de Leitura , Proteínas Repressoras/genética , Dermatopatias/genética , Proteína 1 Relacionada a Twist/genética , Criança , Displasia Ectodérmica , Pestanas/patologia , Face/patologia , Feminino , Hipoplasia Dérmica Focal/patologia , Displasias Dérmicas Faciais Focais , Heterozigoto , Humanos , Indígenas Norte-Americanos , Lactente , Masculino , México , Linhagem , Fenótipo , Irmãos , Dermatopatias/patologiaRESUMO
Odontogenic keratocysts (OKCs) are epithelial developmental cysts which were first described byPhillipsen in 1956. Lesions are frequently multiple and a component of Nevoid Basal Cell CarcinomaSyndrome (NBCCS) (Gorlin Goltz syndrome/Bifid rib syndrome). We hereby report a case of multipleOKCs in a non syndromic patient and highlight the general practitioner the importance of diagnosingthe disease and enforcing a strict long-term follow-up whenever such a case is identified.
Os keratocistos odontogênicos são cistos de desenvolvimento que foram descritos primeiramentepor Phillipsen, em 1956. As lesões são frequentemente múltiplas, sendo componentes da síndromedo carcinoma nevoide de células basais (síndrome de Gorlin, síndrome das costelas bífidas).Descreve-se um caso de keratocistos múltiplos em paciente não-sindrômico, enfatizando-se aimportância do clínico geral no diagnóstico da doença e reforçando a necessidade de umapreservação a longo prazo tão logo a doença seja diagnosticada.
Assuntos
Humanos , Feminino , Adulto , Cistos Odontogênicos/patologia , Cistos Odontogênicos , Diagnóstico Diferencial , Hipoplasia Dérmica Focal/patologia , Arcada Osseodentária/lesões , Radiografia PanorâmicaRESUMO
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic condition characterized by numerous malformations in different organ systems derived from the ectoderm and mesoderm. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual features such as an early inflammatory vesicular stage and a cleft lip and palate. We emphasize that a prompt, well-orchestrated and effective multidisciplinary intervention can help improve the quality of life in patients afflicted with this condition.
Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Hipoplasia Dérmica Focal/patologia , Dermatopatias Vesiculobolhosas/complicações , Feminino , Hipoplasia Dérmica Focal/complicações , Humanos , Recém-NascidoRESUMO
A síndrome do carcinoma nevóide basocelular (SCNB), também conhecida como síndrome de Gorlin-Goltz, representa uma condição autossômica dominante de penetrância completa e expressividade variada, caracterizada por alterações cutâneas, ósseas e dentárias, além de poder afetar o sistema nervoso central e estruturas oculares. O desenvolvimento de múltiplos carcinomas basocelulares em idade precoce, costela bífida ou costelas alargadas, presença de ceratocistos maxilares, sinais palmares e plantares além de calcificações ectópicas da foice cerebral normalmente representam os achados mais freqüentes. O presente trabalho relata o caso de uma jovem paciente portadora da SCNBC discutindo a importância do CD no seu diagnóstico e a necessidade de um acompanhamento multidisciplinar