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Basaloid follicular hamartoma syndrome: acquired sporadic variant with hypothyroidism, hypohidrosis and alopecia, a rare case.
J Pak Med Assoc
June 2023
Department of Histopathology, PNS Shifa Hospital, Karachi, Pakistan.
Article Synopsis
- Basaloid follicular hamartoma is a rare, benign hair follicle malformation, appearing as multiple brown papules primarily on the face, scalp, and trunk.
- It can either be congenital or acquired and may occur with or without other diseases, making it clinically significant as it can resemble basal cell carcinoma.
- The case reported involves a 51-year-old woman with acquired basaloid follicular hamartomas linked to alopecia, hypothyroidism, and hypohidrosis, highlighting its rarity.
Type 1 interferon signature and cytotoxic T lymphocyte activation targeted against sweat ducts in inflammatory acquired idiopathic generalized anhidrosis.
J Eur Acad Dermatol Venereol
October 2023
Department of Dermatology, Shinshu University Hospital, Matsumoto, Japan.
Background: Acquired idiopathic generalized anhidrosis (AIGA) leads to heat intolerance due to the loss or reduction in thermoregulatory sweating over an extensive area of the body. The pathomechanism of AIGA is still unclear but is believed to be autoimmune.
Objectives: We investigated the clinical and pathological features of inflammatory AIGA (InfAIGA) and noninflammatory AIGA (non-InfAIGA) within the skin.
Propylthiouracil-induced Alopecia Accompanying Hypohidrosis and Onychomadesis.
Acta Derm Venereol
August 2022
Department of Dermatology, Institute of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.
Exp Dermatol
May 2022
Hair and Skin Research Laboratory, Division of Dermatology, Groote Schuur Hospital and the Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Mutations in the human FAM111B gene are associated with a rare, hereditary multi-systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP-associated FAM111B gene mutations reported in thirty-six patients from five families globally. To investigate the clinical significance of these mutations, we summarized individual cases by clinical features and position of the reported FAM111B gene mutations as those within and outside the putative protease domain (MWPPD and MOPPD respectively).
View Article and Find Full Text PDFANOTHER syndrome-Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review.
Respirol Case Rep
December 2021
Division of Respirology, Department of Medicine Cumming School of Medicine, University of Calgary Calgary Alberta Canada.
Ectodermal dysplasias (EDs) are a heterogeneous rare group of disorders with an incidence at 1/100,000 live births. Currently, there are limited case reports of patients requiring lung transplantation. Here, we report two brothers who present with a constellation of features including alopecia, nail dystrophy, ophthalmic complications, thyroid disease, hypohidrosis, ephelides, enteropathy and recurrent respiratory tract infections, known as ANOTHER syndrome, a rare autosomal recessive variant of ED.
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