RESUMEN
Hypohidrotic ectodermal dysplasia (HED) is a rare disorder characterized by deficient development of structures derived from the ectoderm including hair, nails, eccrine glands, and teeth. HED forms that are caused by mutations in the genes EDA, EDAR, or EDARADD may show almost identical phenotypes, explained by a common signaling pathway. Proper interaction of the proteins encoded by these three genes is important for the activation of the NF-κB signaling pathway and subsequent transcription of the target genes. Mutations in the gene EDARADD are most rarely implicated in HED. Here we describe a novel missense mutation, c.367G>A (p.Asp123Asn), in this gene which did not appear to influence the interaction between EDAR and EDARADD proteins, but led to an impaired ability to activate NF-κB signaling. Female members of the affected family showed either unilateral or bilateral amazia. In addition, an affected girl developed bilateral ovarian teratomas, possibly associated with her genetic condition.
Asunto(s)
Displasia Ectodermal Anhidrótica Tipo 1/genética , Receptor Edar/genética , Proteína de Dominio de Muerte Asociada a Edar/genética , Mutación Missense/genética , Neoplasias Ováricas/genética , Teratoma/genética , Adolescente , Enfermedades de la Mama/genética , Receptor Edar/metabolismo , Proteína de Dominio de Muerte Asociada a Edar/metabolismo , Femenino , Cabello/crecimiento & desarrollo , Humanos , Masculino , FN-kappa B/metabolismo , Neoplasias Ováricas/patología , Linaje , Transducción de Señal/genética , Teratoma/patologíaRESUMEN
Amazia refers to a condition where one or both of the mammary glands are absent in which the nipple and areola remain present, breast parenchyma is absent, and it may be unilateral or bilateral. We present a case of unilateral amazia. On literature review, very few cases were reported.
RESUMEN
BACKGROUND: Congenital breast anomalies present challenging management decisions to the plastic surgeon. One must consider the optimal age of reconstruction as well as the ideal surgical technique. Amazia, a very rare condition characterised by a complete lack of breast tissue in the presence of a nipple areolar complex (NAC), is one such congenital breast anomaly. METHODS: A comprehensive systematic review of the literature was performed to examine the various approaches to reconstruction of congenital breast anomalies. From this review, the data compiled included patient demographics and operative details, including type of reconstruction, treatment of the contralateral breast and treatment of the NAC. A case of bilateral amazia is also reported. RESULTS: Of 178 articles, 13 ultimately met the inclusion criteria and 54 individual patient reconstructions were identified from these papers. At the time of reconstruction, the patients were in the range of 13-54 years, with an average age of 27.6 years. Prosthetic and autologous reconstructions were equally represented (19 patients each, 35.2%; Table 2). Autologous reconstruction with prosthesis was slightly less common (15 patients, 27.8%). One patient was reconstructed using autologous lipo-augmentation only. Of the 36 cases in which the approach to the NAC was addressed, most (66.7%) were not reconstructed. CONCLUSIONS: Amazia is a very rare congenital anomaly of the breast. This systematic review of the literature highlights the need for better reporting and examination of this type of data to allow for future study and to better advise on decision making regarding the timing of reconstruction, surgical technique and the approach to the NAC.