Rombo syndrome
"Vermiculate atrophoderma + multiple BCCs" syndrome — described in a single Swedish family by Michaëlsson, Olsson and Westermark in 1981
Rombo syndrome is an exceptionally rare autosomal dominant genodermatosis described in a single extended Swedish family by Michaëlsson and colleagues in 1981, with only a handful of further reports worldwide. The cardinal features comprise a distinctive cutaneous pentad — vermiculate atrophoderma of the cheeks, multiple milia, congenital hypotrichosis with thinning of eyebrows and eyelashes, peripheral cyanosis (acrocyanosis of the hands and feet), and multiple basal cell carcinomas from middle age. The underlying genetic defect remains unknown. Recognition matters because the cutaneous phenotype overlaps with Bazex-Dupré-Christol syndrome and Gorlin syndrome — the three "multiple early-BCC syndromes" sharing partly overlapping skin features but with distinct inheritance patterns and extra-cutaneous associations. Lifelong dermatological surveillance and surgical management of recurrent BCCs are the cornerstones of care.
Cardinal pentad
- Vermiculate atrophoderma of the cheeks — characteristic "worm-eaten" or "cribriform" cheek atrophy with multiple small depressed pits / scars; develops in late childhood / adolescence; the most distinctive cutaneous clue.
- Multiple milia — small white cysts on the face from infancy / childhood.
- Hypotrichosis — sparse scalp hair, eyebrows and eyelashes from infancy / childhood.
- Peripheral cyanosis (acrocyanosis) — bluish discolouration of the hands and feet, particularly in the cold; may be associated with telangiectasias.
- Multiple basal cell carcinomas — from middle age (~35+); face and trunk; lifetime accumulation.
- Other features — trichoepitheliomas in some, dental anomalies, hyperhidrosis (in some).
Genetics
- Autosomal dominant inheritance.
- Underlying genetic defect unknown at present.
- Diagnosis remains clinical, based on the cardinal pentad in an affected family.
Differential diagnosis — multiple early-BCC syndromes
- Bazex-Dupré-Christol syndrome — X-linked dominant; multiple BCCs from second decade + follicular atrophoderma of the dorsal hands + congenital hypotrichosis + hypohidrosis — see monograph. The most clinically similar syndrome to Rombo, distinguished by inheritance pattern, atrophoderma site (hand vs cheek), age at BCC onset and presence of hypohidrosis.
- Gorlin syndrome (naevoid BCC syndrome) — autosomal dominant PTCH1; multiple BCCs from second decade + palmar pits + jaw odontogenic keratocysts + medulloblastoma + bifid ribs + falx calcification + macrocephaly + frontal bossing — see monograph.
- Xeroderma pigmentosum — autosomal recessive; severe early-onset BCC, cSCC and melanoma + extreme UV photosensitivity from infancy — see monograph.
- Multiple familial trichoepithelioma — see Brooke-Spiegler / CYLD; multiple trichoepitheliomas can be confused with BCCs.
Management
- Multidisciplinary care — dermatology, plastic surgery, clinical genetics; lifelong.
- Photoprotection — broad-spectrum SPF 50+ daily, sun-protective clothing, vitamin D supplementation as needed.
- Annual / 6-monthly full-skin surveillance from middle age (or earlier if BCCs develop).
- Surgical management of individual BCCs:
- Excisional surgery with full histology.
- Mohs micrographic surgery for facial / cosmetically important sites.
- Topical / destructive therapies for selected superficial BCCs.
- Hedgehog pathway inhibitors (vismodegib, sonidegib) — for unresectable / recurrent disease — see vismodegib.
- Cosmetic management of vermiculate atrophoderma — limited; ablative laser resurfacing may improve appearance.
- Cosmetic management of milia — extraction, topical retinoids.
- Genetic counselling — heritability counselling for offspring; family-history-based diagnosis.
References
- Michaëlsson G et al. The Rombo syndrome — a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol; 1981.
- van Steensel MA et al. The Rombo syndrome — a unique hereditary syndrome. Arch Dermatol; 2001.
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