{{Infobox medical condition (new) | synonyms = Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis | name = Rombo syndrome | image = Autosomal dominant - en.svg | caption = Rombo syndrome is inherited in an autosomal dominant manner<ref>{{cite web|title=OMIM Entry - 180730 - ROMBO SYNDROME|url=https://omim.org/entry/180730|website=omim.org|access-date=7 August 2017|language=en-us}}</ref> | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}
'''Rombo syndrome''' is a very rare genetic disorder characterized mainly by [[atrophoderma vermiculatum]] of the face,<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|580}} multiple [[milium (disease)|milia]], [[telangiectases]], acral [[erythema]],<ref name="pmid11422044">{{cite journal|vauthors=van Steensel MA, Jaspers NG, Steijlen PM|title=A case of Rombo syndrome|journal=[[Br. J. Dermatol.]]|volume=144|issue=6|pages=1215–8|date=June 2001|pmid=11422044|doi=10.1046/j.1365-2133.2001.04235.x|s2cid=24195995}}</ref> peripheral [[vasodilation]] with [[cyanosis]],<ref name="pmid6177160">{{cite journal|vauthors=Michaëlsson G, Olsson E, Westermark P|title=The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis|journal=[[Acta Derm. Venereol.]]|volume=61|issue=6|pages=497–503|year=1981|doi=10.2340/0001555561497503 |pmid=6177160|s2cid=28727015 |doi-access=free}}</ref> and a propensity to develop [[basal cell carcinoma]]s.<ref name="pmid11422044"/>
The lesions become visible in late childhood, began at ages 7 to 10 years and are most pronounced on the face. At that time a pronounced, somewhat [[cyanosis|cyanotic]] redness of the lips and [[hands]] was evident as well as moderate [[Hair follicle|follicular]] [[atrophy]] of the skin on the cheeks. In adulthood, whitish-yellow, [[milium (disease)|milia]]-like [[papules]] and telangiectatic vessels developed. The [[papules]] were present particularly on the [[cheeks]] and [[forehead]], gradually becoming very conspicuous and dominating the clinical picture. [[Trichoepithelioma]]s were found in 1 case.{{cn|date=May 2022}}
In adults, the [[eyelashes]] and [[eyebrows]] were either missing or irregularly distributed with defective and maldirected growth. [[Basal-cell carcinoma|Basal cell carcinomas]] were a frequent complication. The skin atrophy was referred to as [[vermiculate atrophoderma]]. Basal cell carcinomas may develop around the age of 35. Histological observations during the early stage include irregularly distributed and atrophic [[hair follicles]], [[milium (disease)|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 (skin)|epidermis]] and in the [[dermal]] [[fibroblast]]s.<ref name="pmid6177160" /> Histologic sections showed the [[dermis]] to be almost devoid of [[elastin]] in most areas with clumping of elastic material in other areas. The disorder had been transmitted through at least 4 generations with instances of male-to-male transmission.<ref name="pmid6177160" />
== See also == * [[Tricho–rhino–phalangeal syndrome]] * [[List of cutaneous conditions]] * [[List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer]] * [[List of cutaneous neoplasms associated with systemic syndromes]]
==References== {{reflist}} == External links == {{Medical resources | DiseasesDB = 33487 | ICD10 = L98.8 | ICD9 = | ICDO = | OMIM = 180730 | OMIM_mult = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C535870 | Orphanet = 3110 }} [[Category:Rare diseases]] [[Category:Syndromes]] [[Category:Genodermatoses]] [[Category:Genetic disorders with OMIM but no gene]]