Results 61 to 70 of about 5,312 (130)

Genetic Testing in Mosaicism

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

Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis – A Retrospective Chart Review of 107 Patients

Indian Journal of Dermatology
Background: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan, Shirin Bakshi, Debajyoti Chatterjee, Dipankar De, Uma N. Saikia, Sanjeev Handa   +5 more
doaj   +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, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Systematized linear epidermolytic hyperkeratosis [PDF]

, 2014
A 5-year-old boy presented with widespread asymptomatic hyperpigmented verrucous plaques since 3 months of age. The lesions were distributed in a linear manner along Blaschko's lines on trunk and extremities and were accentuated in flexures and around ...
Kumar, Piyush, Kumar, Rajesh, Mandal, Rajesh Kumar, Hassan, Shahid   +3 more
core   +1 more source

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma [PDF]

, 2016
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.
Fernandez, Martin, Austin Smith, Wallace, Parekh, Palak, Cope, Austin   +3 more
core   +1 more source

Hiperceratose epidermolítica: um seguimento de 23 anos de uso de retinoides orais Epidermolytic hyperkeratosis: a follow-up of 23 years of use of systemic retinoids

Anais Brasileiros de Dermatologia, 2011
A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica.
Priscila Wolf Nassif, Sadamitsu Nakandakari, Letícia Fogagnolo, Letícia Arsie Contin, Cinthia Janine Meira Alves   +4 more
doaj   +1 more source

Bullying in Children With Congenital Ichthyosis

Pediatric Dermatology, Volume 42, Issue 3, Page 499-505, May/June 2025.
ABSTRACT Background/Objectives Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Andrea M. Rustad, Hannah Soltani, Lynna J. Yang, Jenna E. McKenney, Ziyou Ren, Stephanie M. Rangel, Amy S. Paller   +6 more
wiley   +1 more source

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf, Marie Clark, Anthony Chen, Anita Haggstrom   +3 more
wiley   +1 more source