Results 51 to 60 of about 10,297 (160)
GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
Animal Genetics, Volume 57, Issue 1, February 2026.Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann +3 more
wiley +1 more source
Epidermolytic hyperkeratosis: a rare case [PDF]
, 2017 A 6 month old girl presented with generalized hyperkeratosis, most marked over the flexures since birth. On the basis of the clinical& histopathologic findings, she was diagnosed as a case of epidermolytic hyperkeratosis .She was treated with ...
Pan, Koushik +4 more
core
Response of pruritic scrotal epidermolytic acanthomas to pimecrolimus 1% cream [PDF]
, 2021 Epidermolytic acanthomas (EA) are rare benign tumors of unclear etiology that present as flat, sometimes slightly keratotic, pale or whitish papules that are usually asymptomatic.
García-Legaz Martínez, M +7 more
core +1 more source
Acantoma epidermolitico da região escrotal Epidermolytic acanthoma of the scrotum
Anais Brasileiros de Dermatologia, 2006 São apresentados dois casos de acantoma epidermolítico da região escrotal. Trata-se de homens com 52 e 68 anos de idade, tendo 21 e cinco lesões, respectivamente, todas assintomáticas.
Nelson Guimarães Proença +1 more
doaj +1 more source
Clinical Case Reports, Volume 13, Issue 11, November 2025.ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Muhammad Zaeem +6 more
wiley +1 more source
JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
Indian Journal of Dermatology, 2003 We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya +2 more
doaj
Bullae and Scales in a Newborn
JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj +3 more
wiley +1 more source
Diagnostic Workup of Mosaicism in Children
JEADV Clinical Practice, Volume 4, Issue 3, Page 659-663, August 2025.ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential ...
Francesca Besagni +4 more
wiley +1 more source