About Epidermolytic Hyperkeratosis and Other Rare Skin Diseases

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Epidermolytic Hyperkeratosis

EHK is a rare, heraditary, CONGENITAL skin disease of variable severity charaterized by thick, warty, blistering skin with large red patches (erythoderma) covering much of the body. Hyperkeratosis is an overgrowth of the horny layer of epidermis. though scales might improve to localized disease after puberty EHK is lifelong.

transmitted as an AUTOSOMAL DOMINANT trait, the responsible gene, keritin K1, is located on the chromosone 12q and K10. About 3000 people in the United States are affected. Prenatal detection is available via fetal skin biopsy or by DNA analyisis when the MUTATION is known via AMNIOCENTESIS.

There are some therapies available but there is no cure for EHK.

Incontinentia Pigmenti

Incontinetia Pigmenti (IP) ia a gentic disease of the skin, hair, teeth and the central nervous system
The consition was named because of the way the skin looks under the microscope. Other names for IP are:Bloch-Siemans incontinentia pigmenti melanoblastosis cutis lineris, and pigmented dermatosis, Bloch-Siemans Type. all therse names describe the same condition which is called IP. IP has not nbeen studied in great detail until just recently, so the information about it has been both limited and confusing.

If you want more info on IP go to http://www.medhelp.org/www/nipf.htm
that is the website for the National Incontinentia Pigmenti Foundation
I have an extra packet if anyone needs it, just e-mail me.

Erythrokertademia variabilis

EKV is chareterized by discrete red, thickened plaques with tightly adherent, yello-brown, small scales, they may be localized or wide spread, but do not move. EKV appears at birth or within the first yer. Longterm-scaly plaques change little over time, red patches vary in intensity, patern and distribution and may be induced by enviroment or emotional changes.
I have recieved this information over the web. If this is not enough and you need more info, try EMedicine, or a related site.

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if the info above
is not enough, please contact me and
I will try to refer you to another website that would be more helpful.