Genetic disorder characterized by facial follicular skin
atrophy, milia, telangiectasias, absent eyelashes and eyebrows, and basal cell
carcinomas later on in life.
Unknown incidence; inheritance
seems to be autosomal dominant.
The skin changes usually start between the ages
of 7 and 10 years with follicular atrophy (so-called atrophoderma
vermiculatum), particularly on the cheeks, and with discoloration of the
lips and hands (cyanosis-like). Milia-like papules with telangiectasias
develop in adulthood, and basal cell carcinomas are a frequent complication
of this syndrome, but appear later in life than in Bazex Syndrome. Basal
cell carcinomas with milia and coarse, sparse hair syndrome or congenital
hypotrichosis with milia syndrome. Microscopically, a widespread lack of
elastin in many skin areas with clumping of elastic components in other
areas can be identified. Dermal collagen fibrils may have signs of
hyalinization and vacuolization. Skin can get the aspect of solar elastosis.
The eyebrows and eyelashes may either show an irregular, patchy distribution
with distorted and maldirected growth, or may be missing completely.
No anesthetic complications are expected
to arise from this syndrome, and no literature is available.
Bazex Syndrome: Characterized by
lesions suggesting “multiple ice-pick marks” on the dorsum of the hands
and elbows dating from early infancy. Basal cell carcinomas may
developed on the face between ages 15 and 26 years. Hypotrichosis is
identical to the skin lesions seen in Conradi Disease and in Basal Cell
Nevus Syndrome. It is considered X-linked dominant and presents similar
features to the Rombo Syndrome. Other features include the presence of a
“pinched” nose with hypoplastic alae and prominent columella. This medical
condition has been reported mainly in France and all patients were
Michaelsson G, Olsson E, Westermark P: The Rombo syndrome: A familial
disorder with vermiculate atrophoderma, milia, hypotrichosis,
trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with
cyanosis. Acta Derm Venerol
Van Steensel, MA, Jaspers, NG, Steijlen PM: A case of Rombo syndrome. Br J Dermatol