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Bald from Birth: What is Congenital Hypotrichosis?

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Hair loss is a common affliction for many and is generally considered to be an expected element of the aging process. As we grow older, the health of our hair follicles begins to change. As aging occurs the hair follicles (those tiny holes in the skin at the base of the hair shaft) begin to shrink. Formerly thick hair begins to grow finer, and longer hair grows shorter until eventually the follicles close entirely and hair ceases to grow. Androgenetic alopecia or male pattern baldness affects approximately half of all Caucasian (ethnicity does play a role) men over age 50.  Although titled “male pattern baldness” alopecia can affect both men and women. Hair loss can be a result of age, genetics and hormone changes among other things. 

Alopecia can occur regardless of age, but only impacts those of us who are born with hair. Congenital hypertrichosis is a condition in which we are born without hair and hair does not grow. This affliction is quite common in animals; think hairless cats and dogs but not so much in humans. Unlike alopecia which occurs as we age or as a result of a medical issue such as infections, Hypotrichosis is a congenital illness. This means from the time of birth that the hair follicles are deficient and not functioning properly. Additionally, this condition does not only impact the hair follicles on the head. Hypotrichosis can also affect the eyelashes, eyebrows, and hair on other regions of the body. At this time the prevalence of hypotrichosis is unknown. In other words, we do not know how many infants are born with this condition each year but, we do know it affects the genders equally. 

 

Congenital hypertrichosis is generally caused by an anomaly that occurs during the process of embryonic development. There are several different disorders that can cause hypotrichosis. Below are a couple of examples.

  • Congenital Aplasia: This is a developmental defect where the skin does not fully form during the process of embryonic development. As a result, at birth, a child may be born with a patch of skin that resembles an open wound or ulcer. When the defect scabs over and heals, it does so without hair follicles. 
  • Congenital Atrichia: This condition is caused by a defect in the gene sequence. This condition often presents as a total absence of hair at birth sometimes accompanied by lesions on the face, limbs, and body. Because infants born with this defect are sometimes born with normal hair follicles in the scalp they are sometimes misdiagnosed as having a form of alopecia. In some (less common) presentations, an infant is born with a minimal amount of hair which they shortly lose and are never able to grow back. 
  • Congenital Sebaceous Nevus: Infants with this condition are born without normal hair follicles. The existing hair follicles often contain tumor-like structures in the sebaceous glands (the gland which secretes oil into the hair follicles) which impairs the normal function of the follicle. These tumors should be removed as they can, in some cases, turn malignant. 

 

In addition to the various causes of Hypotrichosis, there are several types of genetic hypertrichosis.  We will not dive too deeply into the specifics of each type, but they include conditions such as Graham-Little Syndrome, Ofuji Syndrome, Marie Unna hypotrichosis and cartilage-hair hypoplasia among hundreds of others. Often, individuals afflicted with hypotrichosis present with additional physical or mental conditions as well. These can include abnormalities such as anhidrosis, onychodystrophy, keratosis, dwarfism, and dental issues. It is quite rare for Hypotrichosis to present as an isolated defect. 

 

Unfortunately, unlike alopecia, the treatment prospects for Hypotrichosis are quite limited. For hypotrichosis of the eyelashes, there has been a success with a treatment called Latisse. This is the first product on the market to treat hypotrichosis of the eyelashes. For other areas of the body, treatment is less promising. In many cases, a diagnosis of hypotrichosis is considered to be untreatable. Cosmetic treatments such as wigs are suggested but, medically there are not any creams or washes prescribed at this time to cure or treat hypotrichosis. On a positive note, however, there are a variety of clinical trials ongoing which are exploring the success of topical treatments such as Minoxidil, Bimatoprost and topical fluocinolone acetonide acetate. Although these studies show some successes in growth of hair or regrowth of hair in cases where the hair was present at birth and then lost, there are currently not any concrete studies which point to a true treatment for this condition. Products used to treat alopecia are not shown to be successful as in many cases the hair follicle is not simply damaged as with alopecia, it is entirely not present. 

When a child presents with baldness at birth it is important to correctly determine the cause. Often a misdiagnosis of alopecia is given, and this presents a challenge to the child and the physician helping the family. Unfortunately, at this time there is no known cure or treatment for congenital hypotrichosis but hopefully, with time, some of the trials currently underway will present with promising outcomes. 

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Sources:
  • https://www.lahairmd.com/congenital-hair-follicle-deficiency-hypotrichosis/
  • https://www.webmd.com/skin-problems-and-treatments/hair-loss/congenital-hypotrichosis#1
  • http://www.ijdvl.com/article.asp?issn=0378-6323;year=1996;volume=62;issue=4;spage=242;epage=245;aulast=Pasricha
  • https://www.semanticscholar.org/paper/Topical-minoxidil-improves-congenital-hypotrichosis-Tanahashi-Sugiura/7566256645a2e951e47c8542b45a3a20a2382e97#paper-header
  • https://clinicaltrials.gov/ct2/show/NCT01765764
  • http://www.ijdvl.com/article.asp?issn=0378-6323;year=1996;volume=62;issue=4;spage=242;epage=245;aulast=Pasricha
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