The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of neutrophils||90%|
|Abnormality of the fingernails||90%|
|Abnormality of coagulation||50%|
|Abnormality of female internal genitalia||50%|
|Abnormality of the pharynx||50%|
|Abnormality of the testis||50%|
|Aplasia/Hypoplasia of the skin||50%|
|Hypopigmented skin patches||50%|
|Intrauterine growth retardation||50%|
|Recurrent respiratory infections||50%|
|Rough bone trabeculation||50%|
|Telangiectasia of the skin||50%|
|Abnormal blistering of the skin||7.5%|
|Abnormality of the eyebrow||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Hypopigmentation of hair||7.5%|
|Inflammatory abnormality of the eye||7.5%|
|Neoplasm of the pancreas||7.5%|
|Reduced bone mineral density||7.5%|
|Abnormality of skin pigmentation||-|
|Abnormality of the teeth||-|
|Acute myeloid leukemia||-|
|Anal mucosal leukoplakia||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Bone marrow hypocellularity||-|
|Decreased testicular size||-|
|Delayed speech and language development||-|
|Failure to thrive||-|
|Hyperpigmentation of the skin||-|
|Nasolacrimal duct obstruction||-|
|Premature graying of hair||-|
|Premature loss of teeth||-|
|Pterygium of nails||-|
|Restrictive ventilatory defect||-|
|Reticulated skin pigmentation||-|
|Sparse scalp hair||-|
|Specific learning disability||-|
|Squamous cell carcinoma||-|
|Squamous cell carcinoma of the skin||-|
|X-linked recessive inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
2013 Epithelial Differentiation and Keratinization GRC/GRS
Saturday, May 11, 2013 -
Sunday, May 12, 2013
Location: Renaissance Tuscany Il Ciocco Resort, Lucca (Barga), Italy
Description: Novel findings in rare disease gene identification, together with studies on disease mechanisms in human patients and in mouse models, will suggest novel therapeutic approaches and form the basis for new prenatal tests. Investigators including Drs. Tolar and Oro will report on the results of bone marrow stem cell therapies and small molecule therapeutics in human patients with rare skin diseases; successful outcomes of these clinical trials will spur expansion of the use of these approaches in patients. Gene correction in patient derived iPS is an exciting potential therapeutic approach to both recessive and dominant genetic skin diseases. Drs. Roop and Christiano will provide updates on derivation and characterization of iPS from patients, and will discuss approaches to gene correction and differentiation of iPS into skin cell lineages for potential use in grafting procedures
Contact: Carl C. Baker, M.D., Ph.D., NIAMS(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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