A 56-year-old woman with hypohidrotic ectodermal dysplasia presented with a 10-year history of persisting wart-like skin lesions on her feet. Biopsy revealed changes of eccrine syringofibroadenoma. These lesions are rare, with only nine case reports describing an association with ectodermal dysplasia of hidrotic type (Clouston and Schopf's syndrome). To our knowledge, this is the first case of eccrine syringofibroadenoma developing in the hypohidrotic/anhidrotic subtype of ectodermal dysplasia.
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http://dx.doi.org/10.1111/ajd.13604 | DOI Listing |
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
October 2024
Division of Ophthalmology, Children's Hospital of Philadelphia.
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFJ Family Med Prim Care
November 2024
Department of Internal Medicine, University of Minnesota, Minneapolis, MN, United States.
Ectodermal dysplasia (ED) is a spectrum of inherited disorders that compromise the development and function of ectodermal structures, like hair, nails, and teeth. This case report describes a 17-year-old male with sparse hair and cognitive difficulties who was diagnosed with ED in childhood. A multidisciplinary evaluation with dermatology, neurology, and dentistry revealed characteristic clinical features, and the histopathological diagnosis was confirmed via punch biopsy.
View Article and Find Full Text PDFHypomelanosis of Ito (HI), a neurocutaneous syndrome, is characterized by skin depigmentation and skeletal, muscular, central nervous system, cardiac, and renal manifestations. A wide variety of cutaneous manifestations besides depigmentation have been reported. Herein we describe a 23-year-old woman with HI whose extracutaneous symptoms included severe mental and motor impairment, convulsions, and deformity of the orofacial region.
View Article and Find Full Text PDFPediatr Int
December 2024
Center for Perinatal and Neonatal Medicine, Tohoku University Hospital, Sendai, Miyagi, Japan.
Background: Clinical studies have shown that diffuse chorioamniotic hemosiderosis (DCH) is a risk factor for bronchopulmonary dysplasia (BPD). However, the details of the underlying mechanism are unknown. We focused on iron, one of the blood components that diffuses within the amniotic cavity in DCH.
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