Results 71 to 80 of about 3,399 (216)

PD‐L1‐Inhibitor‐Associated Hidradenitis Suppurativa

open access: yes
Journal of Cutaneous Pathology, EarlyView.
Annie Jin   +2 more
wiley   +1 more source

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

open access: yesContemporary Clinical Dentistry, 2015
The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal   +3 more
doaj   +1 more source

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey [PDF]

open access: yes, 2016
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation.
Barba Romero, Miguel Ángel   +1 more
core   +3 more sources

Topiramate associated hypohidrosis and hyperthermia.

open access: yesIndian pediatrics, 2008
PubMedID ...
Incecik F.   +2 more
openaire   +2 more sources

Granulomatous mycosis fungoides with hypohidrosis mimicking lepromatous leprosy

open access: yesIndian Journal of Dermatology, Venereology, and Leprology, 2010
Granulomatous mycosis fungoides (GMF) is a rare type of cutaneous T cell lymphoma. A 38-year-old married male presented with decreased sweating all over the body for last 8 years, progressive redness and scaling over body for 2 years and multiple noduloulcerative lesions over the body for 1 year.
Gutte, Rameshwar   +4 more
openaire   +2 more sources

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi   +2 more
doaj  

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF

open access: yesPediatric Dermatology, Volume 42, Issue 6, Page 1265-1269, November/December 2025.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm   +5 more
wiley   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

open access: yes, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM   +6 more
core   +1 more source

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng   +5 more
wiley   +1 more source

Idiopathic generalized anhidrosis with absence of sweat glands: A case report and literature review

open access: yesDermatologica Sinica, 2018
Idiopathic generalized anhidrosis is a rare disease characterized by sweating impairment despite exposure to heat or exercise. It could be congenital or acquired. We reported a 22-year-old male with generalized anhidrosis, except axillae, forehead, palms
Chih-Ting Chen, Ding-Dar Lee
doaj   +1 more source

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