Rombo syndrome
Encyclopedia
Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face, multiple milia
, telangiectases, acral erythema
,peripheral vasodilation
with cyanosis
and a propensity to develop basal cell carcinoma
s.
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
redness of the lips and hands was evident as well as moderate follicular atrophy
of the skin on the cheeks. In adulthood, whitish-yellow, milia
-like papules and telangiectatic vessels developed. The papules were present particularly on the cheeks and forehead
, gradually becoming very conspicuous and dominating the clinical picture. Trichoepithelioma
s were found in 1 case. In adults, the eyelashes and eyebrows were either missing or irregularly distributed with defective and maldirected growth. Basal cell carcinomas were a frequent complication. The skin atrophy was referred to as 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, milia
, dilated dermal vessels, lack of elastin
or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in epidermis and in the dermal fibroblast
s..
Histologic sections showed the dermis
to be almost devoid of 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.
Milia
A Milium , also called a milk spot or an oil seed, is a keratin-filled cyst that can appear just under the epidermis or on the roof of the mouth. Milia are commonly associated with newborn babies but can appear on people of all ages...
, telangiectases, acral erythema
Erythema
Erythema is redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. It occurs with any skin injury, infection, or inflammation...
,peripheral vasodilation
Vasodilation
Vasodilation refers to the widening of blood vessels resulting from relaxation of smooth muscle cells within the vessel walls, particularly in the large arteries, smaller arterioles and large veins. The process is essentially the opposite of vasoconstriction, or the narrowing of blood vessels. When...
with cyanosis
Cyanosis
Cyanosis is the appearance of a blue or purple coloration of the skin or mucous membranes due to the tissues near the skin surface being low on oxygen. The onset of cyanosis is 2.5 g/dL of deoxyhemoglobin. The bluish color is more readily apparent in those with high hemoglobin counts than it is...
and a propensity to develop basal cell carcinoma
Basal cell carcinoma
Basal-cell carcinoma is the most common type of skin cancer. It rarely metastasizes or kills. However, because it can cause significant destruction and disfigurement by invading surrounding tissues, it is still considered malignant. Statistically, approximately 3 out of 10 Caucasians may develop a...
s.
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
Cyanotic
Cyanotic is a Chicago-based industrial rock collective fronted by Sean Payne that formed in 2002 and released its first full-length album in 2005. Cyanotic is known for its genre-blending work, which fuses traditional industrial beats and vocals with drum n bass, sampling and heavy metal to create...
redness of the lips and hands was evident as well as moderate follicular atrophy
Atrophy
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations , poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, disuse or lack of exercise or disease intrinsic to the tissue itself...
of the skin on the cheeks. In adulthood, whitish-yellow, milia
Milia
A Milium , also called a milk spot or an oil seed, is a keratin-filled cyst that can appear just under the epidermis or on the roof of the mouth. Milia are commonly associated with newborn babies but can appear on people of all ages...
-like papules and telangiectatic vessels developed. The papules were present particularly on the cheeks and forehead
Forehead
For the Arsenal striker see GervinhoIn human anatomy, the forehead is the fore part of the head. It is, formally, an area of the head bounded by three features, two of the skull and one of the scalp. The top of the forehead is marked by the hairline, the edge of the area where hair on the scalp...
, gradually becoming very conspicuous and dominating the clinical picture. Trichoepithelioma
Trichoepithelioma
Trichoepithelioma is a neoplasm of the adnexa of the skin.One form has been mapped to chromosome 9p21.- Types :Trichoepitheliomas may be divided into the following types:* Multiple familial trichoepithelioma* Solitary trichoepithelioma...
s were found in 1 case. In adults, the eyelashes and eyebrows were either missing or irregularly distributed with defective and maldirected growth. Basal cell carcinomas were a frequent complication. The skin atrophy was referred to as 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, milia
Milia
A Milium , also called a milk spot or an oil seed, is a keratin-filled cyst that can appear just under the epidermis or on the roof of the mouth. Milia are commonly associated with newborn babies but can appear on people of all ages...
, dilated dermal vessels, lack of elastin
Elastin
Elastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing tissue in the bodies of...
or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in epidermis and in the dermal fibroblast
Fibroblast
A fibroblast is a type of cell that synthesizes the extracellular matrix and collagen, the structural framework for animal tissues, and plays a critical role in wound healing...
s..
Histologic sections showed the dermis
Dermis
The dermis is a layer of skin between the epidermis and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis...
to be almost devoid of elastin
Elastin
Elastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing tissue in the bodies of...
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.