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Shwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis.
Pediatr Dermatol
November 2024
Department of Dermatology, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore.
Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome characterized by the triad of exocrine pancreatic dysfunction, cytopenia, and skeletal abnormalities. We report a 5-month-old boy with SDS who presented with generalized ichthyosis in the neonatal period that evolved into more eczematous skin eruptions, accompanied by severe failure to thrive. This report highlights the importance of including SDS as a differential diagnosis in patients who present with early ichthyosis, failure-to-thrive, gastrointestinal symptoms and cytopenia.
View Article and Find Full Text PDFNETSKINMODELS: A European Network for Skin Engineering and Modeling.
J Invest Dermatol
January 2025
Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:
Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.
J Dermatol
March 2025
Department of Dermatology, Self-Defense Forces Central Hospital, Tokyo, Japan.
Acral peeling skin syndrome (APSS; MIM 609796) is a rare genodermatosis characterized by painless focal cutaneous exfoliation of the dorsal hands and feet, typically displaying autosomal recessive inheritance. While cases associated with a founder mutation in TGM5 are relatively common in European Caucasian populations, no APSS cases have been reported from Japan or other East Asian countries. In contrast, Nagashima-type palmoplantar keratosis (NPPK; MIM 615598), caused by variants in SERPINB7, is relatively common in East Asia due to founder mutations.
View Article and Find Full Text PDFNeurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour.
Case Rep Gastroenterol
June 2024
Department of Gastroenterology and Hepatology, Tan Tock Seng Hospital, Singapore, Singapore.
Introduction: Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel.
Case Presentation: We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST.
Cutaneous Metastases: Clinicopathologic Study of 30 Patients.
Skinmed
March 2024
Dermatology Department, Research Unit "Genodermatoses and cancers LR12SP03", Habib Thameur Hospital, Tunis, Tunisia.
Cutaneous metastases (CMs) of internal malignancies are uncommon. The breast in women and the lung in men represent the two elective sites of internal malignancies metastasizing to the skin. The aim of this study was to determine the epidemiologic, clinical, and pathologic features of CMs.
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