Alerts and Notices
SynopsisRombo 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.
L90.8 – Other atrophic disorders of skin
Z15.09 – Genetic susceptibility to other malignant neoplasm
721904001 – Rombo syndrome
Differential Diagnosis & Pitfalls
- Bazex-Dupré-Christol syndrome – An X-linked dominant disease, characterized by follicular atrophoderma, hypotrichosis, and BCCs that develop in adolescence. Widened follicular ostia typically seen on the dorsal hands but can occur anywhere.
- Rothmund-Thomson syndrome
- Bloom syndrome
- Rasmussen syndrome – Characterized by milia, trichoepithelioma, and cylindroma.
- Multiple trichoepitheliomas
- Follicular basaloid proliferation
- Generalized hair follicle hamartomas