Download Cancer Prone Disease Section Rombo syndrome Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Cancer Prone Disease Section
Short Communication
Rombo syndrome
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: September 2011
Online updated version : http://AtlasGeneticsOncology.org/Kprones/RomboID10169.html
DOI: 10.4267/2042/46949
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Differential Diagnosis
Identity
Inheritance
Rare disorder, with less than 10 cases described, with a
probable autosomal dominant transmission, as
suggested by the family tree of four generations in the
princeps report (Michaëlsson et al., 1981).
Clinics
Neoplastic risk
Basal cell carcinomas are a frequent complication.
Genes involved and proteins
Note
The gene involved in this rare disease is unknown.
Phenotype and clinics
Skin changes appear at the age of 6-10 years, with
cyanotic redness, acral erythema, thin implantation of
hair
and
absent
eyelashes
(hypotrichosis).
Atrophoderma vermiculatum (severe skin atrophy) of
the face and sun-exposed areas, telangiectasia and
milia-like papules develop in adulthood. Histology of
the skin shows highly irregular distribution of elastin in
the upper dermis, with areas without elastin and others
with clumps of elastin, vascular proliferation and
lymphocytes infiltration (Michaëlsson et al., 1981; Van
Steensel et al., 2001).
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(2)
Resembles Bazex-Dupré-Christol syndrome, which is a
X-linked dominant disease.
156
References
Michaëlsson G, Olsson E, Westermark P. The Rombo
syndrome: a familial disorder with vermiculate atrophoderma,
milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas
and peripheral vasodilation with cyanosis. Acta Derm
Venereol. 1981;61(6):497-503
van Steensel MA, Jaspers NG, Steijlen PM. A case of Rombo
syndrome. Br J Dermatol. 2001 Jun;144(6):1215-8
This article should be referenced as such:
Huret JL. Rombo syndrome. Atlas Genet Cytogenet Oncol
Haematol. 2012; 16(2):156.