Focal dermal hypoplasia
Other Names for this Disease
- Goltz Gorlin Syndrome
- Goltz Syndrome
Some of the skin findings include streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), telangiectases, and streaks of slightly darker or lighter skin. These skin features can cause pain, itching, irritation, or lead to skin infections. With age, most develop wart-like growths, called papillomas, around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Other features include small, ridged fingernails and toenails as well as sparse, brittle or absent scalp hair.
The skeleton is usually affected as well. Many individuals have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, which usually do not cause symptoms.
Eye abnormalities are common and can include microphthalmia and anopthalmia as well as problems with the tear ducts. The retina or the optic nerve can also be incompletely developed, which can result in a gap or split in these structures (coloboma). Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.
People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Some individuals may have a cleft lip and/or palate.About half of those with focal dermal hypoplasia have teeth abnormalities of their teeth, especially of the enamel (the hard, white material that forms the protective outer layer of each tooth). Less commonly, kidney and gastrointestinal abnormalities are present. The kidneys may be fused together, which can lead to kidney infections. The main gastrointestinal abnormality that is seen is an omphalocele.
The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dermal hypoplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Focal dermal hypoplasia. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia. Accessed 9/23/2011.