Early‐onset acral basal cell carcinomas in Gorlin syndrome

Torrelo, Antonio; Vicente, A.; Navarro, Lara; Planagumà, M.; Bueno, Elena Villamañán; González‐Sarmiento, Rogelio; Hernández‐Martín, Ángela; Noguera‐Morel, Lucero; Requena, Luis; Colmenero, Isabel; Parareda, Andreu; González-Enseñat, Maria Antònia; Happle, Rudolf

doi:10.1111/bjd.13118

Cited by 12 publications

(23 citation statements)

References 15 publications

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“…White patients usually develop more BCCs than their darker‐skinned counterparts, most likely due to their greater sensitivity to sunlight . Therefore, even in genetically predisposed individuals, darker skin pigmentation is a protective factor against ultraviolet radiation . In addition, the mean age of onset is usually much lower in white patients .…”

Section: Epidemiologymentioning

confidence: 99%

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Basal cell naevus syndrome: an update on genetics and treatment

John

Schwartz

2015

Br J Dermatol

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Basal cell naevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, most commonly patched 1 (PTCH1). The classic triad of symptoms consists of basal cell carcinomas, jaw keratocysts and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms and development of several types of tumours, early diagnosis and close monitoring are essential to preserve quality of life. Targeting treatment is often difficult because of tumour prevalence. Newer inhibitors of the hedgehog signalling pathway and proteins involved in proliferative growth have shown therapeutic promise. In addition, preventive medications are being devised. We propose a method for determining appropriate treatment for cutaneous tumours.

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Section: Epidemiologymentioning

confidence: 99%

“…3 Therefore, even in genetically predisposed individuals, darker skin pigmentation is a protective factor against ultraviolet radiation. 4 In addition, the mean age of onset is usually much lower in white patients. 5 Because symptoms appear gradually, most diagnoses are made in patients between 17 and 35 years of age.…”

Section: Epidemiologymentioning

confidence: 99%

Basal cell naevus syndrome: an update on genetics and treatment

John

Schwartz

2015

Br J Dermatol

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“…Men and women are equally affected, without any clear genotype-phenotype correlation for the timing or number of basal cell carcinomas that develop (8). These generally present in the teenage/young adult years, but these skin tumors have been reported in children as young as 2 years old (9,10). Cardiac fibromas may develop in infants and ovarian fibromas in adolescent girls and women, and these may cause physiologic compromise of normal function, especially when calcified.…”

Section: Introduction and Clinical Featuresmentioning

confidence: 99%

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

Foulkes

Kamihara

Evans

et al. 2017

Clinical Cancer Research

153

113

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Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU). SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma. Surveillance MRI in the first years of life in SUFU mutation carriers is, therefore, recommended. Given the risk of basal cell carcinomas, regular dermatologic examinations and sun protection are also recommended. Rhabdoid tumors (RT) are tumors initially defined by the descriptive “rhabdoid” term, implying a phenotypic similarity with rhabdomyoblasts at the microscopic level. RTs usually present before the age of 3 and can arise within the cranium as atypical teratoid/rhabdoid tumors or extracranially, especially in the kidney, as malignant rhabdoid tumors. However, RTs of both types share germline and somatic mutations in SMARCB1 or, more rarely, SMARCA4, each of which encodes a chromatin remodeling family member. SMARCA4 mutations are particularly associated with small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). The outcome following a diagnosis of any of these tumors is often poor, and the value of surveillance is unknown. International efforts to determine surveillance protocols are underway, and preliminary recommendations are made for carriers of SMARCB1 and SMARCA4 mutations. Clin Cancer Res; 23(12); e62–e67. ©2017 AACR. See all articles in the online-only CCR Pediatric Oncology Series.

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“… 2 Moreover, to date, only 2 patients with the syndrome have been reported as having early-onset acral BCCs. 3 The following case aims to enrich the current literature of this rare manifestation of Gorlin syndrome and suggests contiguity between palmo-plantar pits and BCCs of the same distribution.…”

Section: Introductionmentioning

confidence: 96%