Results 61 to 70 of about 1,207 (150)

Family and tumour studies in breast and oesophageal cancer [PDF]

, 1997
This study focussed on two areas in the field of cancer susceptibility. The initial area was the genetic analysis of a recently mapped breast cancer susceptibility locus, BRCAl, in a number of breast and breast-ovarian cancer families.
Kelsell, David Peter
core   +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

A Review of Hand Eczema Subtypes: Clinical Features, Biomarkers and Treatment Strategies

Contact Dermatitis, Volume 92, Issue 6, Page 421-435, June 2025.
ABSTRACT Hand eczema is a common dermatological condition that significantly impairs quality of life. The classification of hand eczema has been considered an essential step for its management. The diagnosis of hand eczema relies on the aetiological and clinical features of hand lesions, a process complicated by the heterogeneous presentations and the ...
David Pesqué, Juan Francisco Silvestre‐Salvador, Ana Carolina Figueiredo, Ramon Maria Pujol, Margarida Gonçalo, Ana María Giménez‐Arnau   +5 more
wiley   +1 more source

Isolated plantar punctate porokeratosis: case report

Journal of the Egyptian Women’s Dermatologic Society
Porokeratosis is a rare distinct acquired or congenital skin disease of unknown origin, characterized by abnormal keratinization. A rare form of porokeratosis known as punctate porokeratosis is distinguished by raised lesions on the palms and soles that ...
Enas A.S. Attia
doaj   +1 more source

A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation [PDF]

, 2017
journal ...
74863, 74864, 74865, 74866, 74867, 74868, 74869, Akiyama, Masashi, Kojima, Daiei, Kono, Michihiro, Okuno, Yusuke, Suga, Yasushi, Takeichi, Takuya, Tsukamoto, Katsuhiko   +13 more
core   +1 more source

A Unique Type of Hereditary Punctate Palmoplantar Keratodermas

Dermatology and Dermatitis, 2017
Keratodermas encompass a wide spectrum of disorders of keratinization that may be acquired or hereditary. We present two cases of focal acral hyperkeratosis (FAH), a subtype of punctate palmoplantar keratoderma. We review the literature and attempt to clarify the confusing classification of the heritable punctate palmoplantar keratodermas.
Cesar Ricardo, Brady Mark, Diego Luis
openaire   +1 more source

Porokeratoses: an update on pathogenesis and treatment

International Journal of Dermatology, Volume 64, Issue 1, Page 62-71, January 2025.
Abstract Porokeratoses (PK) are a group of uncommon dermatoses characterized by abnormal epidermal differentiation due to a disorder of the mevalonate metabolic pathway. Several clinical subtypes exist that can be associated with the same patient or affect different patients within a family and could, therefore, be different expressions of one disease.
Konstantinos‐Antonios Kostopoulos‐Kanitakis, Jean Kanitakis   +1 more
wiley   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge [PDF]

, 2021
Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality.
Bucci, Paolo, Cantile, Tiziana, Caponio, Vito Carlo Alberto, Coppola, Noemi, Leuci, Stefania, Mignogna, Michele Davide, Russo, Daniela, Spagnuolo, Gianrico   +7 more
core   +1 more source

The Network of Mystery: Unraveling Atypical Dermatopathia Pigmentosa Reticularis

Clinical Dermatology Review
Dermatopathia pigmentosa reticularis (DPR) is a rare ectodermal dysplasia characterized by generalized reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy, caused by autosomal dominant mutations in KRT14. Fewer than 25 cases have been
Spandana Devarahalli Krishnamurthy, Eshwari Logannathan, K Chandan Srinivasa, M Madhu   +3 more
doaj   +1 more source