Information on the following diseases can be found in the Related Disorders section of this report:

• Ichthyosis
• Ichthyosis Congenita
• X-Linked Ichthyosis
• Psoriasis

Erythrokeratodermia Progressiva Symmetrica is a rare form of ichthyosis, a group of skin disorders characterized primarily by scaly skin. Usually, this disorder stabilizes after 1 to 2 years, and partially regresses during puberty. This disorder is characterized by red hardened plaques with clear limits. Skin plaques are distributed symmetrically on the head, buttocks, legs and arms. The palms of the hands and the soles of the feet may be involved. The lesions may be itchy (pruritic).

Erythrokeratodermia Progressiva Symmetrica is a hereditary disorder transmitted through either autosomal recessive or dominant genes.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.

In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Erythrokeratodermia Progressiva Symmetrica affects males and females in equal numbers. It is a rare skin condition.

Symptoms of the following disorders may be similar to those of Erythrokeratodermia Progressiva Symmetrica. Comparisons can be useful for a differential diagnosis:

"Ichthyosis" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.)

Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red, dry and rough skin, with large, coarse scales. Itchiness (pruritus) usually also develops. Skin on the palms of the hands and soles of the feet is abnormally thick. (For more information, choose "Ichthyosis Congenita" as your search term in the Rare Disease Database.)

X-Linked Ichthyosis is an inherited skin disorder affecting males, caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in steroid hormone metabolism and cholesterol sulfate may accumulate in the blood and skin. (For more information, choose "X-Linked Ichthyosis" as your search term in the Rare Disease Database.)

Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi-Hunermann Syndrome, Chanarin-Dorfman Syndrome, and Epidermolytic Hyperkeratosis. (Choose the appropriate name as your search term for more information on that disorder in the Rare Disease Database.)

Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques which usually appear on the scalp, elbows, or knees. (For more information, choose "Psoriasis" as your search term in the Rare Disease Database.)

Erythrokeratodermia Progressiva Symmetrica is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder.

Patients diagnosed with keratitis ichthyosis deafness syndrome, progressive symmetric erythrokeratodermia, or palmoplantar keratoderma associated with deafness or hearing impairment are invited to participate in genetic studies being conducted at the Thomas Jefferson University. The research team is interested in studying the clinical spectrum of these inherited skin disorders and identifying their molecular basis. Several individuals and families already participate in this study (as of December 2000). It is hoped that additional participants will join the project. Those who choose to participate will be seen in the Genodermatosis Clinic at the Department of Dermatology and Cutaneous Biology of Thomas Jefferson University in Philadelphia. Those who cannot go to Philadelphia may be able to participate anyway. For additional information, contact:

Gabriele Richard, M.D.
Assistant Professor for Dermatology and Genetics
Department of Dermatology and Cutaneous Biology
Thomas Jefferson University
233 S. 10th St., BLSB, Suite 409
Philadelphia, PA 19107
Tel: 215 503-8259
Fax: 215 503-5788
e-mail: Gabriele.Richard@mail.tju.edu

Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate can be effective against symptoms of Erythrokeratodermia Progressiva Symmetrica, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin, when taken by pregnant women, can cause severe birth defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis.

The National Institute of Health (NIH)/National Institute of Arthritis, Musculoskeletal and Skin Diseases is looking for individuals with various kinds of Ichthyosis who are willing to participate in research aimed at mapping the genes responsible for their disorder. For more information, interested persons may contact:

Sherri Bale, M.D.
NIH/National Institute of Arthritis, Musculoskeletal and Skin Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 402-2679

The orphan product Monolaurin (Glylorin), a topical cream, is being tested for treatment of Ichthyosis. More studies are needed to determine the long-term safety and effectiveness of this drug for the treatment of Ichthyosis. For more information, contact:

Cellegy Pharmaceuticals, Inc.
371 Bel Marin Keys, Suite 210
Novato, CA 94949
(415) 382-6770

A Focused Study of Certain Genetic Diseases: Studies are underway to learn more about certain genetic (neuromuscular and non-neuromuscular) diseases. Blood samples will be used to extract DNA samples for study. The diseases being investigated include: Congenital Muscular Dystrophies (occidental type, Walker-Warburg, Fukuyama); Congenital Muscular Dystrophy, Bonneville-Ullrich Type; S.C.A.R.M.D. (severe childhood autosomal recessive muscular dystrophy); Emery-Dreifuss Muscular Dystrophy; Oculopharyngeal Muscular Dystrophy; Myotubular Myopathy; Centronuclear Myopathy; Multicore Myopathy; Facio-Scapulo-Humeral Myopathy (unlinked to chromosome 4); Congenital Myotonia (Thomsen's Disease); Schwartz-Jampel Syndrome; Myositis Ossificans; Charcot Marie Tooth Disease, Type 2; Distal Myopathies; Spastic Paraplegia (Strumpell-Lorrain); Friedreich's Ataxia; Familial Hypertrophic Cardiomyopathies; Usher Syndrome, Type I; Long QT Syndrome; Lemli-Opitz Syndrome, Type 2; Duane Syndrome; Lafora's Disease; Juvenile Myoclonic Epilepsia; Holt-Oram Syndrome; Jervell-Lange-Nielsen Disease; Lenz Syndrome; Aicardi-Goutieres Syndrome; Coffin-Lowry Syndrome; Ichthyosis; Spinal Cerebellar Ataxia; Familial Mediterranean Fever; Bardet-Biedl Syndrome; and Blackfan-Diamond Anemia. For more information on these studies, please contact:

Association Francaise Contre Les Myopathies
1 Rue De L'Internationale
BP 59 - 91002
Evry CEDEX, Nancy
France
Phone: 011 33 88 1 69 47 28 28
Fax: 011 33 88 60 77 12 16

GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987: issue 5(1)). Pp. 155-178.

THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF ICHTHYOSIS. ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM: M. Buxman, et al.; Journal Am Acad Dermatol (December 1986: issue 15(6)). Pp. 1253-1258.

THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1027-1039.

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA. HISTOLOGICAL AND ULTRASTRUCTURAL STUDY OF PATIENT BEFORE AND AFTER TREATMENT WITH ETRETINATE: V. Nazzaro, et al.; Arch Dermatol (April 1986: issue 122(4)). Pp. 434-440.