Results 51 to 60 of about 762 (161)

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

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

The spectrum of benign dermal dendritic melanocytic proliferations

, 2019
Dermal melanocytoses (DMs) comprise a heterogeneous group of benign lesions, located on skin and mucous membranes, characterized by dendritic melanocytes in the dermis. Although they share common histopathological features, some variants may present only
Baykal, Can, Yilmaz, Z., C. Baykal, Sun, G. P., Z. Yılmaz, N. Büyükbabani, Buyukbabani, N., G.P. Sun   +7 more
core   +1 more source

Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations [PDF]

, 2015
Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases.
Kaur, Tejinder, Kooner, Shitij, Sethi, Anisha, Sharma, Nidhi, Banger, Harmeet   +4 more
core   +1 more source

Congenital Melanocytic Naevi

JEADV Clinical Practice, Volume 4, Issue 3, Page 690-696, August 2025.
ABSTRACT Congenital melanocytic naevi (CMN) are birthmarks that can cover large areas of the body. CMN can significantly impact individuals' lives due to perceived stigma, the risk for melanoma development and neurological complications. To treat and prevent these complications, adequate research and guidelines are needed.
A. C. Fledderus, C. J. A. van Eijsden, N. den Hertog, M. S. van Kessel, A. Wolkerstorfer, M. M. Pleumeekers, S. G. M. A. Pasmans   +6 more
wiley   +1 more source

Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant: A harbinger of GM1 gangliosidosis

, 2016
Gangliosidoses are a group of rare lysosomal storage diseases (LySD) involving the accumulation of lipids in multiple organ systems, including the central and peripheral nervous systems. These disorders are inherited in an autosomal recessive pattern and
Chu, Catherine, Armstrong-Javors, Amy
core   +1 more source

Phenotypic Spectrum of GNA11 R183C Mosaicism

Pediatric Dermatology, Volume 42, Issue 3, Page 475-480, May/June 2025.
ABSTRACT Background Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G‐protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Donglin Zhang, Luis Fernando Sánchez‐Espino, Marta Ivars, Elena Pope, Amy J. Nopper, Lisa M. Arkin, Megha M. Tollefson, Cinzia E. Lavarino, Maya Muldowney, Nagore Gené Olaciregui, Sonia Paco, Beth A. Drolet, Eulàlia Baselga   +12 more
wiley   +1 more source

Uso de matriz de regeneração dérmica no tratamento cirúrgico do nevus melanocítico congênito gigante- relato de 3 casos. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Figueiredo, Gustavo Knoblauch Borges de
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Constitutional Mismatch Repair Deficiency: Scoping Review of a Cancer‐Predisposition Syndrome With Distinctive Cutaneous Findings

Pediatric Dermatology, Volume 42, Issue 3, Page 437-446, May/June 2025.
ABSTRACT Constitutional mismatch repair deficiency (CMMRD) is a rare but severe hereditary cancer predisposition syndrome caused by biallelic pathogenic variants in one of the mismatch repair genes (MLH1, MSH2, MSH6, or PMS2). The condition mainly presents in childhood, with cancers primarily affecting the hematological, brain, and gastrointestinal ...
Kristie Mar, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

O uso de matriz de regeneração dérmica no tratamento cirúrgico de nevus piloso gigante [PDF]

, 2004
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Erdmann, Anne Gabrielle
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