Results 141 to 150 of about 9,831 (258)
Inflammatory Linear Verrucous Epidermal Nevus Assessment With in Vivo Reflectance Confocal Microscopy: an Easy Option to Consider. [PDF]
Gualdi G+5 more
europepmc +1 more source
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]
Waqas Ullah+5 more
openalex +1 more source
Categories of Cutaneous Mosaicism
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
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
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
Papular Epidermal Nevus with “Skyline” Basal Cell Layer Syndrome – Natural Course: Case Report and Literature Review [PDF]
Carole Anouk Zahn, Peter Itin
openalex +1 more source
Inflammatory linear verrucous epidermal nevus in a patient with diabetes. [PDF]
Htira Y, Mami FB.
europepmc +1 more source
Diagnostic Workup of Mosaicism in Children
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