Einstein is back in the form of an 18-month-old American girl named Taylor McGowan! Scary? Weird? Funny? This sweet little darling is fondly called as mini Einstein not for her physics knowledge (1.5-year-old physicist might sound crazy but anything is possible in this present-day world) but because her hair is chaotic and sticks up from her head just like Einstein’s. It sounds good to be compared to the great physicist, but it is also extremely depressing at the same time to know that this kind of hair is the result of a rare genetic condition called as uncombable hair syndrome (UHC).
Rare Disease in a Nutshell There is no universal definition of a rare disease as different countries have different ratios to categorize diseases as rare. In general, a rare disease is one that affects a minor part of the population. Most of these diseases are genetic, predominantly present in children as these diseases have the tendency to appear early in life and almost 30% of these kids diagnosed with rare diseases die before their fifth birthday. A disease that is considered to be rare in one part of the world or in a particular group of people might be common in another part of the world. Read more on rare diseases, the common rare diseases and their treatment options, if any, at www.firsteatright.com. Uncombable Hair Syndrome (UHC) UHC is a rare disorder of the hair shaft of the scalp characterized by straw-colored or silvery-blond hair that is unruly, stands out from the scalp and cannot be combed flat. It can appear in kids anytime between 3 months and 12 years of age as an isolated disease or in combination with other diseases such as ectodermal dysplasias, Bork syndrome and Angel-shaped phalangoepiphyseal dysplasia. Like many other rare disease, this too has a genetic origin and is the result of mutations in the genes PADI3, TGM3 and TCHH. Proteins are involved in hair shaft formation and the three genes mentioned here code for these proteins. While only around 100 cases are recorded worldwide, there might be 1000s of them that are not yet diagnosed. While theories are making rounds that Einstein might have suffered from UHC, we cannot decipher or conclude anything without a genetic testing. UHC is also known as “spun glass hair syndrome” as individuals with this disease have hair that’s shiny, dry and fizzy and silver, blond or straw-colored. Signs & Symptoms
Diagnosis As UHC predominantly affects the hair shaft, a diagnosis can be made by observing the hair shaft under a special microscope along with observing the regular symptoms of the disease. Microscopic views of the affected individual show hair that is triangular or kidney-shaped on cross section along with a canal-like longitudinal groove along one or two faces. Treatment Most rare diseases don’t have a definite treatment procedure and UHC is no exception. The condition usually improves as the child ages mostly with the onset of puberty. It is recommended that the affected individual follows gentle hair care rituals staying away from harsh treatment methods such as perming, using chemical relaxants, brushing excessively or blow drying. Using soft brushes and conditioners can help to keep your hair clean and manageable. Biotin supplements can be recommended as one case report revealed improved hair strength, combability and increased hair growth after 4 months of biotin supplementation. Comments are closed.
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Dr. Nafeesa Imteyaz of First Eat Right clinic, is the Best Dietitian Nutritionist in Bangalore. Best Dietitian Nutritionist in Pune. Best Dietitian Nutritionist in Hyderabad. Best Dietitian Nutritionist in Chennai. Best Dietitian Nutritionist in Mumbai. Best Dietitian Nutritionist in Delhi. Best Dietitian Nutritionist in Kolkata.