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Revista Cubana de Pediatría
Print version ISSN 0034-7531On-line version ISSN 1561-3119
Abstract
RAMIREZ HIDALGO, Yamirka; VELAZQUEZ AVILA, Yordania and MORALES SOLIS, Maritza. Hyperpigmented genodermatosis. Rev Cubana Pediatr [online]. 2022, vol.94, n.4, e2168. Epub Nov 18, 2022. ISSN 0034-7531.
Introduction:
Genodermatoses are considered rare diseases, as they are rare and affect a small number of individuals. The poor knowledge about them in the field of medical sciences and the poor therapeutic resources available hinder their diagnosis, with high morbidity. In Las Tunas they represent 22.22% of genetic diseases. Among them, can be cited presenting pigmentation alterations with hyperpigmentation: incontinentia pigmenti, LEOPARD syndrome, mastocytosis, neurofibromatosis, Noonan syndrome, and with hyper and hypopigmentation are the didymosis.
Objective:
To compile updated information about the characteristics and diagnostic criteria of the genetic diseases named to facilitate their study and follow-up of patients.
Methods:
Literature review available in SciELO, PubMed Central, Medline Plus, Clinical key, Orphanet and OMIM. The descriptors used were: medical genetics, genetic dermatological diseases. During the review process, 7 books and 16 articles published in the last 5 years were consulted.
Analysis and synthesis of information:
The classification of hyperpigmentary genodermatoses was reviewed, and of these the clinical characteristics, the type of inheritance, the affected gene, the diagnostic criteria and complementary studies.
Conclusions:
Knowing the characteristics and diagnostic criteria of the genetic diseases presented allows to diagnose them, differentiate them between them and favor the follow-up of the affected patients.
Keywords : genodermatosis; incontinentia pigmenti; leopard syndrome; mastocytosis; neurofibromatosis; Noonan syndrome; didymosis.