Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Verrucous nevus is a benign tumor showing a linear pattern on Blaschko lines. It is caused by mosaic mutations of the receptor FGFR3 gene. It manifests as an aesthetic disfigurement, but individuals even experience functional complications due to itchiness. Lesions may be localized or extended (giant). In our context, the scarcity of specialized centers in dermatology is a cause of diagnostic delay inducing the patient to undertake unsuitable therapies responsible for infectious or degenerative complications. We report the case of a 15-year old girl with a history of keratotic papules showing a linear pattern along the neck, the right upper limb, the flank since childhood. Histological examination confirmed the diagnosis of verrucous nevus.
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PMID:[Giant verrucous nevus in a 15-year old girl: about a case]. 3091 76

We present a 4-year-old developmentally appropriate boy with short stature and widespread expanding epidermal nevus with features of acanthosis nigricans. He was found to have a mosaic mutation in FGFR3, the R248C variant. Despite several therapies, he continued to have growth, fissuring, and bleeding of the affected skin. Ultimately, topical sirolimus was attempted and found to improve thickness and overall symptoms.
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PMID:Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans. 3098 34

Breast hypoplasia has been reported in some epidermal nevus syndromes, but not with a keratinocytic epidermal nevus. Herein, we describe the first case of breast hypoplasia associated with a keratinocytic epidermal nevus. Keratinocytic epidermal nevi have been shown to be associated with somatic mutations in FGFR3, PIK3CA, and HRAS. We hypothesize that hypoplasia may be due to a local mutation in the FGFR3 gene or increased androgen receptors in affected breast tissue. The patient was treated with CO2 laser with good cosmetic outcome.
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PMID:Keratinocytic epidermal nevus with ipsilateral breast hypoplasia. 3136 Jul 55

Dermatologically, FGFR3 mutations can lead to acanthosis nigricans (AN), epidermal nevi, and seborrheic keratosis. A recent case report found that topical rapamycin (sirolimus) can improve FGFR3-induced epidermal nevi with AN features in children, specifically with Fitzpatrick skin type (FST) I/II, and we would like to expand these findings to skin plaques with extensive AN-like features in the FST IV/V adolescent population. An 18-year-old female with FST IV/V and FGFR3-induced hypochondroplasia presented to our clinic with extensive AN-like plaques. Significant improvement with lightening and thinning of the plaques was observed after applying 1% topical rapamycin cream twice daily. Topical rapamycin should be considered as a treatment option for AN, particularly in FST IV/V adolescents with FGFR3-induced AN.
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PMID:Topical rapamycin for acanthosis nigricans in the Fitzpatrick IV/V adolescent population. 3309 83


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