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Rombo syndrome in Adult
Other Resources UpToDate PubMed

Rombo syndrome in Adult

Contributors: Jewell Dinkins MS, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Rombo syndrome is an extremely rare, dominantly inherited disorder characterized by the presence of milia, hypotrichosis, vermiculate atrophoderma, peripheral vasodilation with cyanosis, and increased risk of basal cell carcinomas (BCCs). To date, a total of 8 patients have been diagnosed, including 4 generations of one family and 2 unrelated cases.

Vermiculate atrophoderma and reddish-blue skin discoloration usually appear during childhood (between the ages of 7 and 10 years) and become more overt with time. Facial telangiectasias and other disease manifestations subsequently ensue, with BCCs appearing in the third or fourth decade. A single patient in the initial kindred also manifested trichoepitheliomas. A subsequent patient was noted to have numerous vellus hair cysts. While the original description of Rombo syndrome documented milia clinically, some of these lesions contained vellus hairs on biopsy.

The underlying gene defect is unknown. Biopsies from an affected patient showed marked solar elastosis. This together with the early onset of BCCs has led to the theory that the culprit gene may be involved in cell cycle regulation or DNA repair. Others, however, have speculated that the affected gene is involved in follicle growth and differentiation.

Codes

ICD10CM:
L90.8 – Other atrophic disorders of skin
Z15.09 – Genetic susceptibility to other malignant neoplasm

SNOMEDCT:
721904001 – Rombo syndrome

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Last Reviewed:08/30/2021
Last Updated:01/23/2022
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Rombo syndrome in Adult
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Rombo syndrome
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