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Boletín médico del Hospital Infantil de México
versão impressa ISSN 1665-1146
Resumo
CORONA-GUERRA, Guadalupe X. e OCHOA-APREZA, Marisol. Focal dermal hypoplasia (Goltz syndrome). Bol. Med. Hosp. Infant. Mex. [online]. 2018, vol.75, n.3, pp.178-182. ISSN 1665-1146. https://doi.org/10.24875/bmhim.m18000025.
Background:
Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. The management is multidisciplinary and, like the prognosis, depends on the specific alterations that each patient presents.
Case report:
We report the case of a 15-day-old female newborn with alopecic areas on the scalp, herniation of subcutaneous cellular tissue at the lumbar level, nasal wing notch, severe left superior limb defect with rhizomelia (proximal segment shortening) and radio aplasia, as well as right leg ectrodactyly, areas of atrophy compatible with focal dermal hypoplasia according to diagnostic criteria.
Conclusions:
We present a case of female newborn patient with Goltz syndrome.
Palavras-chave : Focal dermal hypoplasia; Goltz syndrome; Skin atrophy; Ectrodactyly; Ectodermal dysplasia.