Introduction
Uncombable hair syndrome is a rare condition affecting the hair shaft of the scalp. It is distinguished by disorderly straw-colored or silvery-blonde hair that protrudes from the scalp and cannot be combed flat. This condition usually appears in childhood, between the ages of infancy and three, but it can appear as late as the age of twelve. Children with this syndrome have light-colored hair that is described as blond or silvery. This syndrome is also known as Cheveux incoiffables, spun glass hair, Pili trianguli et Canaliculi, and unmanageable hair syndrome.
What Is Uncombable Hair Syndrome?
Uncombable hair syndrome (UHS) is a rare condition affecting the scalp's hair shaft. It is characterized by disorderly silvery-blonde or straw-colored hair that protrudes from the scalp and cannot be combed flat. The majority of cases are isolated, but it has been linked to other diseases such as Bork syndrome, ectodermal dysplasias, and angel-shaped phalangoepiphyseal dysplasia. Genetic changes in the genes TGM3, PADI3, and TCHH have been found to cause the syndrome. These three genes code for proteins involved in the formation of hair shafts. The syndrome appears to be autosomal recessive; however, cases inherited autosomal dominantly may also exist, as there are other genes involved in hair growth.
What Causes Uncombable Hair Syndrome?
Mutations in the TGM3 (protein-glutamine gamma-glutamyltransferase E), PADI3 (peptidyl arginine deiminase, type III), or TCHH (trichohyalin) genes cause uncombable hair syndrome. These genes encode instructions for the production of proteins that aid in the structure of the hair strand (shaft). Trichohyalin is a structural protein that is responsible for the hair shaft's proper cylindrical fiber topology. TCHH binds to other TCHH and keratin-intermediate filaments, resulting in proper cross-linking and a cylindrical hair shaft. PADI3 and TGM3 are two enzymes that are responsible for post-translational TCHH modification, which is necessary for TCHH cross-linking within the hair. Mutations in TCHH, PADI3, or TGM3 cause improper cross-linking and an irregular shape of the hair shaft in uncombable hair syndrome.
Mutations in the PADI3, TGM3, or TCHH genes result in the production of proteins with altered activity. As a result, the hair shaft's shape is altered. It has a triangular, heart-shaped, or flat cross-section rather than a cylindrical shape. All of these irregular shapes can occur along the length of a single strand of hair at times. The hair will not lie flat due to the angular shape of the hair shaft. 50 to 100 percent of the strands of hair in children with uncombable hair syndrome have an irregular shape. Furthermore, abnormal hair reflects light differently than normal hair, which accounts for its gleaming sheen.
How Is Uncombable Hair Syndrome Inherited?
Uncombale hair syndrome is inherited in an autosomal recessive pattern when it is caused by mutations in the TGM3, PADI3, or TCHH gene. In such cases, both copies of the gene in each cell have mutations. In an individual with an autosomal recessive condition, the parents usually have one copy of the mutated gene, but they usually do not have the condition.
In other cases, it appears that uncombable hair syndrome is inherited in an autosomal dominant pattern. In such situations, one copy of the altered gene in each cell is enough to cause the disorder. In these cases, the mutation is usually inherited from one affected parent, though the associated gene is unknown.
What Are the Symptoms Associated With Uncombable Hair Syndrome?
The quantity and color of the hair are normal in people with uncombable hair syndrome, and they typically have silvery-blond or straw-colored hair. It cannot be combed flat, is disorganized, and sticks out from the scalp, but it can be controlled by braiding techniques. Phenotypic UHS symptoms either spontaneously improve or disappear by early adulthood. By adolescence or the beginning of adulthood, the abnormally textured hair may eventually lie flat and resemble normal in texture for reasons that are unknown.
The common symptoms associated with UHS are the following.
-
Coarse hair.
-
Woolly hair.
-
Trichodysplasia.
-
Patchy alopecia (baldness).
How Is Uncontrollable Hair Syndrome Diagnosed?
-
Uncontrollable hair syndrome (UHS) can be diagnosed based on clinical features. Affected individuals usually have straw-colored or silvery blond disorganized hair that protrudes from the scalp and is difficult to comb flat.
-
Clinical diagnosis of UHS can be confirmed molecularly by using scanning electron microscopy (SEM) to perform high-resolution microscopy on hair shafts. SEM enables the visualization of cross-sections of hair shafts. In affected individuals, the cross-section of the hair shafts will be triangular, kidney-shaped, heart-shaped, flat, or longitudinally grooved.
-
Embedding hairs in paraffin is an alternative method for confirming a UHS diagnosis. UHS hair refracts light differently than typical hair due to the atypical shape of the hair shafts, resulting in a glistening effect.
Does Uncontrollable Hair Syndrome Need Any Treatment?
Uncombable hair syndrome (UHS) has no definitive treatment as it may regress naturally later in childhood. The only treatment recommended is the use of soft brushes and gentle conditioners. It is also advised to avoid hair treatments that can be damaging to the hair (excessive brushing, blow drying, and coloring hair). In some cases, biotin supplements are used to enhance hair texture and growth.
What Are the Other Conditions Similar to Uncontrollable Hair Syndrome?
Ectodermal dysplasia, ectrodactyly, cleft lip or palate syndrome (EEC syndrome), familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, loose anagen syndrome, and other syndromes with hair abnormalities may also exhibit features of uncombable hair syndrome. Uncombable hair syndrome is not related to any neurological, physical, or mental abnormalities in contrast to these conditions.
Conclusion
Uncontrollable hair syndrome (UHS) is a very rare genetic condition. The affected individuals have straw-colored or silvery-blonde hair that protrudes from the scalp and cannot be combed flat. Uncontrollable hair syndrome usually appears in childhood, between the ages of infancy and three. Sometimes it may appear as late as the age of twelve. Even though the exact cause of uncontrollable hair syndrome is not identified, genetic changes in the genes PADI3, TGM3, and TCHH have been found to cause the syndrome. This condition does not need any specific treatment as the abnormal hair may regress naturally later in childhood.
