$Unique_ID{BRK03878} $Pretitle{} $Title{Incontinentia Pigmenti} $Subject{Incontinentia Pigmenti IP Bloch-Sulzberger Syndrome Bloch-Siemens-Sulzberger Syndrome Incontinentia Pigmenti Achromians Franceschetti-Jadassohn Syndrome Caffey Disease } $Volume{} $Log{} Copyright (C) 1988, 1990 National Organization for Rare Disorders, Inc. 409: Incontinentia Pigmenti ** IMPORTANT ** It is possible the main title of the article (Incontinentia Pigmenti) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms IP Bloch-Sulzberger Syndrome Bloch-Siemens-Sulzberger Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Incontinentia Pigmenti Achromians Franceschetti-Jadassohn Syndrome Caffey Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Incontinentia Pigmenti is a genetic dermatological disorder characterized by unusual patterns of discolored skin. These discolorations tend to improve with age. Abnormal deposits of normal skin pigment (melanin) cause these discolorations. Three stages of progression may overlap or even occur simultaneously in some cases. Other oral, visual and/or neurological symptoms may also occur. Symptoms Incontinentia Pigmenti is divided into three stages of progression. The first two stages may overlap or even occur at the same time. Inflammation (beginning between birth and six months of age) is accompanied by skin redness and spiral lines of small fluid-filled blisters. The number of white blood cells in the blood usually associated with inflammation or infection may be elevated during infancy. A second stage gradually develops with rough, warty skin growths often arranged in the same spiral or linear patterns as in the previous stage. Skin growths usually appear on the arms or legs and less often on the head or trunk. These lesions usually resolve during infancy or early childhood, although persistent growths have been reported in patients as late as age sixteen. The third stage is characterized by discolorations (abnormal deposits of skin pigment known as melanin) appearing in unusual patterns. These often appear as the first two stages are resolving. This stage usually begins between three months and two years of age. Patchy brown or slate gray spots develop in spiral and linear patterns on the arms, legs or trunk. These spots do not seem to appear in previously affected areas. Additionally, they do not follow the lines of nerves, vessels, or cleavage areas. Skin discolorations gradually resolve during late childhood or adolescence, but occasionally they may persist into adulthood. All three stages may frequently overlap or even appear together. A fourth stage may appear consisting of diminished pigmentation or atrophy in areas of previous discolorations. Hair loss with scarring may also occur in rare cases. Other non-dermatological symptoms may occur in approximately fifty percent of affected individuals. Possible dental symptoms include delayed tooth growth or decay, missing or malformed teeth. Diminished vision may develop in approximately one-third of patients. Seizures, muscle spasms or slight paralysis may also occur in rare cases. Deterioration of finger or toe nails is very rare in Incontinentia Pigmenti (IP). Developmental abnormalities may sometimes appear in this disorder but are not considered characteristic. These may include dwarfism or short stature, clubfoot, spina bifida, skull and ear deformities, cleft lip or palate, atrophy of one side of the body (hemiatrophy), abnormal development of cartilage (chondrodystrophy), congenital dislocation of the hip, incomplete development of one side of the spinal bones (hemivertebrae), extra ribs or webbed fingers (syndactyly). Extremely kinky or wooly hair (Wooly hair nevus) and an immune system dysfunction have also been reported in a small number of patients with IP. Causes Incontinentia Pigmenti is thought to be inherited as an X-linked dominant trait. (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 X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive.) Affected Population Incontinentia Pigmenti (IP) is an extremely rare disorder with approximately six hundred cases reported in medical literature in this century. It can occur world wide and affects females almost exclusively. Related Disorders Symptoms of the following disorders can be similar to Incontinentia Pigmenti (IP). Comparisons may be useful for a differential diagnosis: Incontinentia Pigmenti Achromians is characterized by diminished skin pigmentations similar only in pattern to discolorations of Incontinentia Pigmenti (IP). The lack of skin coloration is easily contrasted with the excess discoloration characteristic of IP although diminished skin pigmentations can appear late in the course of some cases of IP. This disorder is inherited as an autosomal dominant trait. A variety of other developmental abnormalities and/or conditions may also occur in conjunction with this illness. Skin color tends to normalize with aging. Franceschetti-Jadassohn Syndrome is marked by skin pigmentation changes similar to those of Incontinentia Pigmenti (IP), but symptoms begin during adolescence and does not follow inflammatory skin changes. Additionally, skin may thicken on the hands and/or feet, ability to sweat may become impaired and yellow mottling of the teeth may occur. This disorder appears to be inherited as an autosomal dominant trait. Caffey Disease is characterized by discolorations accompanied by soft tissue swellings over benign bone growths typically capped by cartilage. Fever and irritability may also occur. Symptoms tend to fluctuate in severity. This disorder, also known as Infantile Cortical Hyperostosis, primarily affects infants under six months of age and often resolves with age. The exact cause is unknown although it is assumed to be genetic. Therapies: Standard Skin abnormalities characteristic of Incontinentia Pigmenti (IP) usually disappear by adolescence or adulthood without any treatment. Diminished vision may be treated using corrective lenses, medication or in severe cases, surgery. Dental abnormalities can often be treated effectively by a dentist. Hair problems may require the attention of a dermatologist in some cases, although they are usually not severe. Neurological symptoms such as seizures, muscle spasms or mild paralysis may be controlled with various drugs and/or medical devices. Since these symptoms are not typical, a neurologist should be consulted. Additionally, skeletal anomalies occurring in conjunction with some cases of IP should be dealt with on an individual basis. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers are trying to locate the gene that causes Incontinenti Pigmenti. Families with this disorder having two generations of affected individuals should contact: Dr. Richard A. Lewis, Associate Professor Depts. of Ophthalmology, Medicine, Pediatrics, and the Institute for Molecular Genetics Baylor College of Medicine 6501 Fanin, NC 206 Houston, TX 77030 (713) 798-3030 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Incontinentia Pigmenti, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referral, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INCONTINENTIA PIGMENTI. STUDY OF 3 FAMILIES: B. Garcia-Bravo, et al.; Ann Dermatol Venereol (1986, issue 113(4)). Pp. 301-308. DOMINANT DISORDERS WITH MULTIPLE ORGAN INVOLVEMENT: Mary F. Kegel, M.D.; Dermatologic Clinics (January 1987, issue 5 (1)). Pp. 210-214.