Pursuit of the pits in the nevoid basal cell carcinoma syndrome

Howell, J. B.

doi:10.1001/archderm.102.6.586

Cited by 14 publications

(2 citation statements)

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“…They are secondary to partial or complete absence of the horny cell layer of the skin (Howell and Mehregan, 1970). Odontogenic keratocysts occur mainly in the mandible, and unlike BCCs, share no racial predilection (Goldstein et al, 1994).…”

Section: Discussionmentioning

confidence: 99%

Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review

AlSalem

Binamer

2016

Journal of Dermatology & Dermatologic Surgery

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Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin Syndrome, is an autosomal dominant multisystem disorder, characterized by multiple developmental abnormalities and inactivation germline mutations in the human homolog of the patched (PTCH) gene. We are presenting a case of NBCCS in a skin type 4 Saudi male with a novel PTCH1 gene mutation. To the best of our knowledge, this is the third case reported in Saudi Arabia but the first in adult population. Moreover, our patient harbors a novel heterozygosity mutation in patch1 gene. Ó 2015 The Authors. Production and hosting by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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Section: Discussionmentioning

confidence: 99%

Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review

AlSalem

Binamer

2016

Journal of Dermatology & Dermatologic Surgery

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“…NBCCS or Gorlin syndrome is an autosomal dominant disorder with palmar and/or plantar pits as characteristic lesions in association with basal cell carcinomas, odontogenic keratocysts, abnormalities of the ribs and vertebrae, palmar and/or plantar pits, epidermoid cysts, milia, ectopic calcifications of the falx cerebri, and a variety of other, less common changes. 1 The skin manifestations may be present at birth or appear during early infancy but are usually first noticed during childhood or adolescence. The palms and soles show hyperkeratosis, diffuse or punctate, but the characteristic change is the presence of almost circular pits with perpendicular edges, measuring up to several millimeters.…”

Section: Discussionmentioning

confidence: 99%

Asymptomatic Palmar Pits: Clinical Evaluation of Six Cases and Review of the Literature

Narang

Dogra

et al. 2008

J Cutan Med Surg

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Palmar pits may have sinister implications in conditions such as nevoid basal cell carcinoma syndrome or Cowden syndrome. The association of palmar pits and Dupuytren contracture seems to be common but is underreported. Palmar pits may be the clinical cutaneous sign of systemic diseases and may sometimes provide a diagnostic clue to other dermatoses. This report emphasizes the significance of the art of clinical observation in dermatology.

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Non‐Melanoma Skin Cancer and Other Epidermal Skin Tumours

Quinn¹,

Perkins²

2010

Rook's Textbook of Dermatology

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Pursuit of the pits in the nevoid basal cell carcinoma syndrome

Cited by 14 publications

References 0 publications

Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review

Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review

Asymptomatic Palmar Pits: Clinical Evaluation of Six Cases and Review of the Literature

Non‐Melanoma Skin Cancer and Other Epidermal Skin Tumours

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