RESUMO
Syringocystadenoma papilliferum is a rare, benign adnexal tumor of eccrine or apocrine origin that typically presents at birth or before puberty. Syringocystadenoma papilliferum is associated with a nevus sebaceus in about 40% of cases. We present a 50-year old woman with a pink-orange plaque and nodule on the scalp, consistent with syringocystadenoma papilliferum that arose within a nevus sebaceus.
Assuntos
Dermatoses do Couro Cabeludo/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Adenomas Tubulares de Glândulas Sudoríparas/patologia , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Dermatoses do Couro Cabeludo/cirurgia , Neoplasias das Glândulas Sudoríparas/cirurgia , Adenomas Tubulares de Glândulas Sudoríparas/cirurgiaAssuntos
Citrus aurantiifolia/efeitos adversos , Clobetasol/administração & dosagem , Mãos , Transtornos de Fotossensibilidade , Fármacos Fotossensibilizantes/efeitos adversos , Administração Tópica , Síndrome CREST/diagnóstico , Diagnóstico Diferencial , Feminino , Sucos de Frutas e Vegetais/efeitos adversos , Glucocorticoides/administração & dosagem , Humanos , Lúpus Eritematoso Cutâneo/diagnóstico , Pessoa de Meia-Idade , Transtornos de Fotossensibilidade/diagnóstico , Transtornos de Fotossensibilidade/etiologia , Transtornos de Fotossensibilidade/fisiopatologia , Transtornos de Fotossensibilidade/terapia , Estruturas Vegetais/efeitos adversosRESUMO
BACKGROUND: Hoyeraal-Hreidarsson syndrome is a dyskeratosis congenita-related telomere biology disorder that presents in infancy with intrauterine growth retardation, immunodeficiency, and cerebellar hypoplasia in addition to the triad of nail dysplasia, skin pigmentation, and oral leukoplakia. Individuals with Hoyeraal-Hreidarsson syndrome often develop bone marrow failure in early childhood. Germline mutations in DKC1, TERT, TINF2, RTEL1, ACD, or PARN cause about 60% of individuals with Hoyeraal-Hreidarsson syndrome. PATIENT DESCRIPTION: We describe 14 years of follow-up of an individual with Hoyeraal-Hreidarsson syndrome who initially presented as an infant with intrauterine growth retardation, microcephaly, and central nervous system calcifications. He was diagnosed with Hoyeraal-Hreidarsson syndrome at age 6 years and had a complicated medical history including severe developmental delay, cerebellar hypoplasia, esophageal and urethral stenosis, hip avascular necrosis, immunodeficiency, and bone marrow failure evolving to myelodysplastic syndrome requiring hematopoietic cell transplantation at age 14 years. He had progressive skin pigmentation, oral leukoplakia, and nail dysplasia leading to anonychia. Whole exome sequencing identified novel biallelic variants in PARN. CONCLUSIONS: This patient illustrates that the constellation of intrauterine growth retardation, central nervous system calcifications, and cerebellar hypoplasia, esophageal or urethral stenosis, and cytopenias, in the absence of congenital infection, may be due to Hoyeraal-Hreidarsson syndrome. Early diagnosis of Hoyeraal-Hreidarsson syndrome is important to optimize medical management and provide genetic counseling.
