Epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis

Chris Schach

Author Bio -

Key Points
*Genetic disorder resulting in malformations within organs and skin lesions, as well as any number of psychological maladies and seizures.
*Patients vary in severity and symptom.
*Skin lesions appear in any number of variations.

Epiloia is more commonly known as tuberous sclerosis (TS) or tuberous sclerosis complex (TSC), a genetic disorder that is characterized by non-cancerous marks or malformations in many organs, but particularly the skin, brain, eye, kidney and heart.

Skin lesions, epileptic seizures and developmental delay/behavioral problems are the main features of TSC. However, individuals with the condition may be affected in many different ways and with differing degrees of severity. Some patients may have very few or no symptoms at all, whilst others may be severely affected with a multitude of symptoms.

Tuberous sclerosis is a genetic disorder. About one third of all cases of TS are inherited from an affected parent. All other cases are due to sporadic new mutations of the tuberin protein gene occurring in the early stages of life. People of all races and sex may be affected.

Skin lesions are common symptoms and may appear in any number of variations. Angiofibromas are facial growths that appears as small pink or red spots and bumps across the cheeks and nose in a butterfly distribution, and sometimes the nails, scalp and forehead. Periungual fibromas are smooth firm, flesh-colored lumps that emerge from the skin around the nails. Shagreen patches are flesh colored orange-peel looking plaques of thickened skin usually on the lower back. Oval or ash leaf-shaped white patches of skin may also be present.

Other non-dermatological symptoms may include epilepsy, brain tumors, developmental delay and behavioral problems, mild to severe mental retardation, autism, ADD, anxiety, depression, paranoia, schizophrenia, white spots on the iris, white lumps on the retina, organ tumors (heart, gastrointestinal, kidney), and lung changes.

Differential Diagnosis (Other conditions with similar appearance)
Acne Vulgaris
Connective Tissue Nevus
Nevus Anemicus

Key Points
*Diagnosis is performed through clinical investigation to confirm correct diagnosis.

Key Points
*Epiloia affects multiple systems so several specialists are required to administer treatment.
*Skin lesions can be surgically excised.

TS is a multisystem disorder so treatment from a team of specialist doctors is usually necessary. Skin lesions, particularly facial angiofibromas, may be psychologically distressing for some patients. Laser treatments or diathermy to remove fibromas may be very helpful.

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