Rosenthal–Kloepfer syndrome, is a

cutaneous Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other animal coverings, such as the arthropod exoskeleton, have different de ...

condition characterized by abnormal growth of

bone A bone is a Stiffness, rigid Organ (biology), organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red blood cell, red and white blood cells, store minerals, provid ...

and

skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe ...

, coupled with clouding of the

cornea The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power ...

. It was described in 1962. Another name for the condition is Acromegaly-cutis verticis gyrata-corneal leukoma syndrome.

Signs and Symptoms

Presenting symptoms include unilateral or bilateral opacification of the cornea, which progressively involves the whole structure. Visual disturbance secondary to

corneal opacification The human cornea is a transparent membrane which allows light to pass through it. The word corneal opacification literally means loss of normal transparency of cornea. The term corneal opacity is used particularly for the loss of transparency of c ...

is often the presenting symptom. Other symptoms include furrowing of the

scalp The scalp is the anatomical area bordered by the human face at the front, and by the neck at the sides and back. Structure The scalp is usually described as having five layers, which can conveniently be remembered as a mnemonic: * S: The ski ...

, enlargement of the bony portion of the

eyebrow An eyebrow is an area of short hairs above each eye that follows the shape of the lower margin of the brow ridges of some mammals. In humans, eyebrows serve two main functions: first, communication through facial expression, and second, prevent ...

s, and disproportionately large hands.

Cause

gene mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitos ...

as has been associated with this disorder. Inheritance follows an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

pattern.

Diagnosis

Radiographic Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeut ...

imaging reveals thickening of bones, especially of the

skull The skull is a bone protective cavity for the brain. The skull is composed of four types of bone i.e., cranial bones, facial bones, ear ossicles and hyoid bone. However two parts are more prominent: the cranium and the mandible. In humans, the ...

, and widening of the bones in the fingers.

References

External links

Cutaneous congenital anomalies Genetic disorders with OMIM but no gene Syndromes {{Dermatology-stub

Signs and Symptoms

Cause

Diagnosis

See also

References

External links