Literature DB >> 6177160

The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis.

G Michaëlsson, E Olsson, P Westermark.   

Abstract

This hitherto unknown and dominantly inherited disorder is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. It has been present in the family reported for at least four generations. The lesions become visible in late childhood and are most pronounced on the face. Basal cell carcinomas may develop around the age of 35. Histological observations during the early stage include irregularly distributed and atrophic hair follicles, milia, dilated dermal vessels, lack of elastin or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in epidermis and in the dermal fibroblasts. On exposure to cold the change in the skin temperature of the hands compared with that in the controls was insignificant. The response to adrenalin iontophoresis was weak.

Entities:  

Mesh:

Year:  1981        PMID: 6177160

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   4.437


  8 in total

1.  A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.

Authors:  A Kidd; L Carson; D W Gregory; D de Silva; J Holmes; J C Dean; N Haites
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

Review 2.  Congenital atrichia and hypotrichosis.

Authors:  Antoni Bennàssar; Juan Ferrando; Ramon Grimalt
Journal:  World J Pediatr       Date:  2011-05-15       Impact factor: 2.764

Review 3.  Basal cell carcinoma - molecular biology and potential new therapies.

Authors:  Maria Kasper; Viljar Jaks; Daniel Hohl; Rune Toftgård
Journal:  J Clin Invest       Date:  2012-02-01       Impact factor: 14.808

Review 4.  Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.

Authors:  Francesco Spadari; Federica Pulicari; Matteo Pellegrini; Andrea Scribante; Umberto Garagiola
Journal:  Maxillofac Plast Reconstr Surg       Date:  2022-07-18

5.  [Genodermatoses with malignant skin tumors].

Authors:  L Hübinger; J Frank
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

Review 6.  Hereditary nonmelanoma skin cancer.

Authors:  Vasiliki Nikolaou; Alexander J Stratigos; Hensin Tsao
Journal:  Semin Cutan Med Surg       Date:  2012-12

Review 7.  Giant solitary trichoepithelioma.

Authors:  Bhavuray Teli; P B Thrishuli; R Santhosh; D N Amar; Shravan Rajpurohit
Journal:  South Asian J Cancer       Date:  2015 Jan-Mar

8.  Skin tumours.

Authors:  Sujay Khandpur; M Ramam
Journal:  J Cutan Aesthet Surg       Date:  2012-07
  8 in total

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