Results 71 to 80 of about 18,577 (227)
Balkan Journal of Medical Genetics, 2023 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T +6 more
doaj +1 more source
Paediatrica Indonesiana, 2017 A severe variety of ichthyosis fetalis or Harlequin fetus is reported with a brief review of the literature. It seemed that our case, Tadjuddin's (Jakarta), and Wong Hock Boon's (Singapore) assure us that the Harlequin fetus can also be seen in the tropics and in all traces where the ichthyosis gene is present.
, Rusdidjas, H, Siregar, S, Tarigan
openaire +3 more sources
BiomedicinesInherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti +23 more
doaj +1 more source
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 more
doaj +1 more source
British Journal of Health Psychology, Volume 31, Issue 3, September 2026.Abstract Objectives Research suggests that some adults with visible differences may experience challenges related to romantic relationships, sex and physical intimacy. Loving ACTion is a self‐guided Acceptance and Commitment Therapy (ACT)‐based intervention delivered as an audio podcast series, co‐produced with adults with visible differences and ...
Maia Thornton +6 more
wiley +1 more source
A case of ichthyosis hystrix: Unusual manifestation of this rare disease
Indian Journal of Dermatology, 2014 Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas +5 more
doaj +1 more source
Journal of Investigative Dermatology, 2018 The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted therapeutics. We aimed to compare frequencies of skin homing/cutaneous lymphocyte antigen (+) versus systemic/cutaneous ...
T. Czarnowicki +14 more
semanticscholar +1 more source
Rare Secondary Neoplasms Arising in Epidermal Nevus: A Case Series and Literature Review
Journal of Cutaneous Pathology, Volume 53, Issue 9, Page 772-782, September 2026.ABSTRACT Malignant transformation is known to occur with many nevi, such as nevus sebaceus. However, cases of secondary tumors developing in an epidermal nevus (EN) are rare, with only a few case reports documented in the literature. We present three unique cases of syringocystadenoma papilliferum (SCAP), syringofibroadenoma, trichilemmoma, and basal ...
Haya A. Homsi +5 more
wiley +1 more source
Journal of Cutaneous Pathology, Volume 53, Issue 9, Page 809-814, September 2026.ABSTRACT Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder affecting apocrine gland–bearing areas. We report a 38‐year‐old male with a lesion in the left axilla, initially clinically interpreted as HS and resistant to antibiotics.
R. Gervasi +10 more
wiley +1 more source