# Rombo syndrome

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Medical condition

Rombo syndrome Other names Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis Rombo syndrome is inherited in an autosomal dominant manner[1]

**Rombo syndrome** is a very rare genetic disorder characterized mainly by [atrophoderma vermiculatum](/source/Atrophoderma_vermiculatum) of the face,[2]: 580 multiple [milia](/source/Milium_(disease)), [telangiectases](/source/Telangiectases), acral [erythema](/source/Erythema),[3] peripheral [vasodilation](/source/Vasodilation) with [cyanosis](/source/Cyanosis),[4] and a propensity to develop [basal cell carcinomas](/source/Basal_cell_carcinoma).[3]

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 [cyanotic](/source/Cyanosis) redness of the lips and [hands](/source/Hands) was evident as well as moderate [follicular](/source/Hair_follicle) [atrophy](/source/Atrophy) of the skin on the cheeks. In adulthood, whitish-yellow, [milia](/source/Milium_(disease))-like [papules](/source/Papules) and telangiectatic vessels developed. The [papules](/source/Papules) were present particularly on the [cheeks](/source/Cheeks) and [forehead](/source/Forehead), gradually becoming very conspicuous and dominating the clinical picture. [Trichoepitheliomas](/source/Trichoepithelioma) were found in 1 case.[*[citation needed](https://en.wikipedia.org/wiki/Wikipedia:Citation_needed)*]

In adults, the [eyelashes](/source/Eyelashes) and [eyebrows](/source/Eyebrows) were either missing or irregularly distributed with defective and maldirected growth. [Basal cell carcinomas](/source/Basal-cell_carcinoma) were a frequent complication. The skin atrophy was referred to as [vermiculate atrophoderma](/source/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](/source/Hair_follicles), [milia](/source/Milium_(disease)), dilated dermal vessels, lack of [elastin](/source/Elastin) or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in [epidermis](/source/Epidermis_(skin)) and in the [dermal](/source/Dermal) [fibroblasts](/source/Fibroblast).[4] Histologic sections showed the [dermis](/source/Dermis) to be almost devoid of [elastin](/source/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.[4]

## See also

- [Tricho–rhino–phalangeal syndrome](/source/Tricho%E2%80%93rhino%E2%80%93phalangeal_syndrome)

- [List of cutaneous conditions](/source/List_of_cutaneous_conditions)

- [List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer](/source/List_of_cutaneous_conditions_associated_with_increased_risk_of_nonmelanoma_skin_cancer)

- [List of cutaneous neoplasms associated with systemic syndromes](/source/List_of_cutaneous_neoplasms_associated_with_systemic_syndromes)

## References

1. **[^](#cite_ref-1)** ["OMIM Entry - 180730 - ROMBO SYNDROME"](https://omim.org/entry/180730). *omim.org*. Retrieved 7 August 2017.

1. **[^](#cite_ref-Andrews_2-0)** James, William; Berger, Timothy; Elston, Dirk (2005). *Andrews' Diseases of the Skin: Clinical Dermatology*. (10th ed.). Saunders. [ISBN](/source/ISBN_(identifier)) [0-7216-2921-0](https://en.wikipedia.org/wiki/Special:BookSources/0-7216-2921-0).

1. ^ [***a***](#cite_ref-pmid11422044_3-0) [***b***](#cite_ref-pmid11422044_3-1) van Steensel MA, Jaspers NG, Steijlen PM (June 2001). "A case of Rombo syndrome". *[Br. J. Dermatol.](/source/Br._J._Dermatol.)* **144** (6): 1215–8. [doi](/source/Doi_(identifier)):[10.1046/j.1365-2133.2001.04235.x](https://doi.org/10.1046%2Fj.1365-2133.2001.04235.x). [PMID](/source/PMID_(identifier)) [11422044](https://pubmed.ncbi.nlm.nih.gov/11422044). [S2CID](/source/S2CID_(identifier)) [24195995](https://api.semanticscholar.org/CorpusID:24195995).

1. ^ [***a***](#cite_ref-pmid6177160_4-0) [***b***](#cite_ref-pmid6177160_4-1) [***c***](#cite_ref-pmid6177160_4-2) Michaëlsson G, Olsson E, Westermark P (1981). ["The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis"](https://doi.org/10.2340%2F0001555561497503). *[Acta Derm. Venereol.](https://en.wikipedia.org/w/index.php?title=Acta_Derm._Venereol.&action=edit&redlink=1)* **61** (6): 497–503. [doi](/source/Doi_(identifier)):[10.2340/0001555561497503](https://doi.org/10.2340%2F0001555561497503). [PMID](/source/PMID_(identifier)) [6177160](https://pubmed.ncbi.nlm.nih.gov/6177160). [S2CID](/source/S2CID_(identifier)) [28727015](https://api.semanticscholar.org/CorpusID:28727015).

## External links

Classification D ICD-10: L98.8 OMIM: 180730 MeSH: C535870 DiseasesDB: 33487 External resources Orphanet: 3110

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Adapted from the Wikipedia article [Rombo syndrome](https://en.wikipedia.org/wiki/Rombo_syndrome) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/Rombo_syndrome?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.