Results 141 to 150 of about 9,831 (258)

Genetic Testing in Mosaicism

open access: yesJEADV 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

First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities [PDF]

open access: gold, 2016
Waqas Ullah   +5 more
openalex   +1 more source

Categories of Cutaneous Mosaicism

open access: yesJEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

open access: yesJEADV 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

Two Cases of Schimmelpenning Syndrome

open access: yesClinical Dermatology Review
Schimmelpenning syndrome is a rare variant of epidermal nevus syndromes that manifests with nevus sebaceous and multi-organ abnormalities. Here, we present two cases illustrating its diverse clinical manifestations.
Aniruddha Gulanikar, Aruna Gunreddy
doaj   +1 more source

Diagnostic Workup of Mosaicism in Children

open access: yesJEADV 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

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