-
La Clinica Terapeutica 2020To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1. (Review)
Review
OBJECTIVE
To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1.
MATERIALS AND METHODS
We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist.
RESULT
Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker's nevus (1.9%), melanoma (0.7%) and poliosis (0.5%).
CONCLUSION
Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Italy; Male; Middle Aged; Neurofibromatosis 1; Prevalence; Skin Diseases; Young Adult
PubMed: 32901776
DOI: 10.7417/CT.2020.2242 -
Indian Pediatrics Aug 2005
Topics: Cafe-au-Lait Spots; Child, Preschool; Humans; Male; Nevus, Pigmented
PubMed: 16141488
DOI: No ID Found -
Indian Journal of Dermatology,... 2021
Topics: Humans; Neurofibromatosis 1; Nevus, Pigmented; Skin Neoplasms
PubMed: 34114426
DOI: 10.25259/IJDVL_325_2021 -
Dermatology Practical & Conceptual Jan 2024
PubMed: 38364440
DOI: 10.5826/dpc.1401a25 -
Proceedings of the Royal Society of... Jun 1936
PubMed: 19990749
DOI: No ID Found -
The Journal of Investigative Dermatology Jun 2023Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem...
Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood. We go on to show that the same variants can cause either the pigmentary or vascular phenotypes alone, and drive melanoma development within pigmentary lesions. Protein structure modeling highlights that although variants lead to loss of function at the level of the phosphatase domain, resultant conformational changes promote longer ligand binding. In vitro modeling of the missense variants confirms downstream MAPK pathway overactivation and widespread disruption of human endothelial cell angiogenesis. Importantly, patients with PTPN11 mosaicism theoretically risk passing on the variant to their children as the germline RASopathy Noonan syndrome with lentigines. These findings improve our understanding of the pathogenesis and biology of nevus spilus and capillary malformation syndromes, paving the way for better clinical management.
Topics: Child; Humans; Neurocutaneous Syndromes; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Mosaicism; Melanoma; Lentigo
PubMed: 36566878
DOI: 10.1016/j.jid.2022.09.661 -
Journal of Osteopathic Medicine Apr 2023
Topics: Humans; Skin Neoplasms; Melanoma; Nevus; Melanoma, Cutaneous Malignant
PubMed: 36710623
DOI: 10.1515/jom-2022-0170 -
Acta Dermato-venereologica Jun 2017
Review
Topics: Female; Humans; Male; Melanoma; Middle Aged; Nevus, Pigmented; Skin Neoplasms
PubMed: 28293687
DOI: 10.2340/00015555-2646 -
The Tohoku Journal of Experimental... Mar 1976Café au lait spots from 14 Japanese patients with neurofibromatosis and nevus spilus from 9 Japanese patients were subjected to the studies on the differences in nature...
Café au lait spots from 14 Japanese patients with neurofibromatosis and nevus spilus from 9 Japanese patients were subjected to the studies on the differences in nature of their melanocytes. When the number of melanocytes of the pigmented lesions was compared with that of the surrounding normal skin, the former was always increased and that of café au lait spot was higher than that of nevus spilus. Giant pigment granules were recognized only in 6 patients out of 14 with neurofibromatosis but not in nevus spilus examined. 2 days after UV irradiation at 4 MED, the number of melanocytes was increased in both surrounding normal skin and pigmented lesion, and the rates of increase were lower in the pigmented lesion. Under the electron microscope, melanocytes in café au lait spots which received an ultraviolet light irradiation showed various changes in their cytoplasm; a development of dendrites containing many mature melanosomes, an increased number of cytoplasmic vacuoles and mitochondria, a development of Golgi apparatus in their cytoplasm, appearances of some dense-bodies and of autophagosomal melanosome-complexes. In nevus spilus, the same kind of changes occurred, but they were moderate compared with those developed in café au lait spots. Melanosomes in the keratinocytes of café au lait spots tended to come together around the nucleus and to form melanosome-complexes; while, melanosomes in the keratinocytes of nevus spilus seemed to be single-dispersed after irradiation. The causative factors of the hyperpigmentation and the different reactivity of melanocytes against UV irradiation in these two pigmented macules were discussed.
Topics: Adult; Child; Dendrites; Female; Golgi Apparatus; Humans; Infant; Male; Melanocytes; Neurofibromatosis 1; Nevus, Pigmented; Radiation Effects; Skin Neoplasms; Ultraviolet Rays
PubMed: 817416
DOI: No ID Found -
Indian Journal of Dermatology 2017
PubMed: 28216737
DOI: 10.4103/0019-5154.198034