Question: What is (are) Uncombable hair syndrome ?
Answer: Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood.
Source: GARD

Question: What are the symptoms of Uncombable hair syndrome ?
Answer: What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat. In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement. The Human Phenotype Ontology provides the following list of signs and symptoms for Uncombable hair syndrome. 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. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Hypopigmentation of hair 90% Woolly hair 90% Abnormal hair quantity 7.5% Autosomal dominant inheritance - Pili canaliculi - Uncombable hair - 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.
Source: GARD

Question: What causes Uncombable hair syndrome ?
Answer: What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.
Source: GARD

Question: Is Uncombable hair syndrome inherited ?
Answer: Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.
Source: GARD

Question: How to diagnose Uncombable hair syndrome ?
Answer: How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces. People with concerns about symptoms of UHS are encouraged to speak with their dermatologist about being evaluated for this condition.
Source: GARD

Question: What are the treatments for Uncombable hair syndrome ?
Answer: How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. These strategies may improve the general manageability of the hair, although how well they work is subjective. Another strategy that has been suggested to improve the appearance of the hair is the use of biotin supplements. One case report suggested significant improvement in hair strength and combability, with an increase in rate of growth after 4 months of supplementation.
Source: GARD