In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.35871 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.
Spec Care Dentist
July 2024
Faculty of Dentistry, Universidad Nacional Mayor de San Marcos, Lima, Peru.
Background: Woolly Hair Syndrome (WHS) is a rare birth condition that affects the structure of hair in non-black people. The pathogenesis is not yet defined. It is postulated that the hair follicle's desmosomes (specifically desmoplaquine, placoglobin and placofilin-1, which are cell structural proteins that keep the adhesion among close cells) would be altered in this pathology, leading to fragility in the cellular union.
View Article and Find Full Text PDFAcral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Exp Dermatol
February 2022
Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
Acral peeling skin syndrome (APSS) is a heterogenous group of genodermatoses, manifested by peeling of palmo-plantar skin and occasionally associated with erythema and epidermal thickening. A subset of APSS is caused by mutations in protease inhibitor encoding genes, resulting in unopposed protease activity and desmosomal degradation and/or mis-localization, leading to enhanced epidermal desquamation. We investigated two Arab-Muslim siblings with mild keratoderma and prominent APSS since infancy.
View Article and Find Full Text PDFPalmo-plantar hyperkeratosis associated with HTLV-1 infection: a case report.
BMC Infect Dis
July 2021
Internal Medicine, La Samaritana Hospital, Bogotá, Colombia.
Background: Palmoplantar hyperkeratosis is a cutaneous manifestation that had not been clearly associated with infection by the human T-cell lymphotropic virus, which is a retrovirus that in most cases does not develop clinical pathologies and its symptoms may be undetected. The skin is one of the most affected organs, however until now only seborrheic dermatitis, xerosis/ichthyosis and infective dermatitis associated with HTLV-1 have been described as cutaneous clinical manifestations of this disease.
Case Presentation: We present the case of a 36-year-old male patient with serologically documented HTLV-1 infection, who presented symptoms of diarrhea, malabsorption due to Strongyloides stercoralis, and in whom a physical examination revealed an association with generalized xerosis and palmoplantar keratoderma confirmed by skin biopsy.
Case Report of Cutaneous Squamous Cell Carcinoma at the Wrist Joint and the Public Health Crisis of Arsenicosis.
J Health Pollut
March 2021
Department of Pathology; King George's Medical University, Lucknow, Uttar Pradesh, India.
Context: Arsenicosis is caused by long term (6 months plus) ingestion of arsenic above a safe dose, characterized by skin lesions and possible involvement of internal organs. Arsenicosis is common in India and Bangladesh where naturally occurring high concentrations of arsenic in the earth's crust contaminate ground water, causing adverse health effects.
Case Presentation: We report a case of a 55-year-old Indian male, resident of a known arsenic endemic region of Uttar Pradesh who suffered from characteristic pulmonary and cutaneous features of chronic arsenic toxicity which included radiological findings of interstitial lung disease, hyperkeratotic lesions over the palms and soles, rain drop like pigmentation over the trunk, and carcinomatous changes at the wrist joint.
Sézary Syndrome: a clinico-pathological study of 9 cases.
Ital J Dermatol Venerol
February 2021
Unit of Dermatology, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy -
Background: Sézary Syndrome (SS) is a rare and aggressive variant of cutaneous T-cell lymphoma characterized by erythroderma, generalized lymphadenopathy and atypical lymphocytes in peripheral blood. The aim of the study is to describe our experience with SS patients.
Methods: Nine SS patients were retrospectively identified within 288 patients with cutaneous T-cell lymphomas (CTCLs) followed from 1977 to 2017 in the Unit of Dermatology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!