Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases

Dear Editor,

Hair loss in childhood is usually accompanied by overwhelming parental concern. There is great value in diagnosing a given case of childhood alopecia, as they may be a clue to an otherwise unfathomable multisystem illness or syndrome.[1] Hair loss in pediatric population often presents with patterns that are different from that of their adult counterparts with varied etiologies. Herein, we describe two cases of atypical alopecia (congenital atrichia without papules and Bjornstad syndrome with alopecia areata).

Case 1

A 4-year-old boy, first in birth order, the product of a second-degree consanguineous marriage presented with loss of hair on the scalp with sparse eyebrows and eyelashes. His mother reported that he was born with hair that fell out within one month of birth and despite undergoing various treatments, there was no favorable response. There was no history of delayed milestones, diminution of vision, seizures, atopy, decreased hearing or sweating, and bone pains. Examination revealed a complete absence of hair on the scalp with few minimal hairs and sparse eyebrows and eyelashes without the presence of any keratotic papules [Figure 1a and b]. Bones, teeth, and nails were normal. No bony abnormalities, dysmorphic features, or systemic involvement was present. Blood counts, liver, and renal function profiles were normal. The vitamin D3 level (1,25-dihydroxycholecalciferol) was 20.44 ng/ml (normal: 30–100 ng/ml). Radiographs of the wrist joints were normal. Trichoscopy revealed clusters of white dots at regular intervals (cluster of stars) on the entire scalp [Figure 2]. A diagnosis of congenital atrichia without papules was made. Parents were counseled about the irreversible nature of the condition.

Figure 1.

(a) 4-year-old boy presented with loss of hair on scalp with few minimal hairs. (b) Sparse eyebrows and eyelashes

Figure 2.

Trichoscopic image showing clusters of white dots at regular intervals (cluster of stars) appearance over the entire scalp. (DermLite DL4 10X, polarized mode)

Case 2

A 6-year-old girl, born of non-consanguineous marriage, presented with short, dry, and brittle scalp hair for three months and multiple recurring localized smooth patches of hair loss on scalp for two years. She had slight difficulty in speech and had been diagnosed as a case of severe sensorineural hearing loss at the age of six months. On examination, patient had smooth patches of alopecia on vertex with short lusterless frizzy hair and a cochlear implant on the right side of the scalp [Figure 3a and b]. Tug test and hair pull test were positive. Oral cavity, teeth, and nails were normal with normal sweating. Trichoscopy revealed broken hair, coudability hair, exclamation mark hair, black dots, and multiple twists along the hair shaft [Figure 4]. Light microscopy revealed thin hair with 180° twisting of the hair shafts and dystrophic hair [Figure 5]. A diagnosis of Bjornstad syndrome with alopecia areata was made. The patient was put on potent topical steroids and significant improvement was seen after three months [Figure 6]. The patient was also advised to minimize hair trauma by avoiding vigorous shampooing, combing, or hairstyling.

Figure 3.

(a) 6-year-old girl presented with short frizzy lusterless hair with a cochlear implant on the right side of the scalp. (b) Smooth patches of alopecia on the scalp

Figure 4.

Trichoscopy depicting broken hair (purple arrow), coudability hair (yellow arrow), black dots (black circle), and pili torti (red arrow). (DermLite DL4 10X, polarized mode)

Figure 5.

Light microscopy shows hair with 180° twisting of the hair shaft (100X)

Figure 6.

Complete regrowth of hair post-treatment [Clinical (a) as well as trichoscopic image (b)]

Our patients presented with a constellation of unusual clinical signs that deviate from classical clinical findings, thereby making their presentation particularly noteworthy. Congenital atrichia with papular lesions is a rare, autosomal recessive, and irreversible disorder characterized by hair loss shortly after birth, with the development of horny papules or keratin-filled cysts over large areas of the body.[2] The disorder results from a mutation in the human hairless gene [HR], located on chromosome 8p21.2.[3] Yip et al.[4] proposed the revised diagnostic criteria for congenital atrichia with papular lesions. Our patient fulfilled two of the five major criteria and four out of the minor criteria. The limitation in our report stems from the absence of papular lesions in our patient, which precluded the possibility of conducting a histopathological examination. Additionally, financial constraints experienced by the patient prevented us from performing genetic analysis.

Bjornstad syndrome is an exceedingly rare genetic disorder characterized by abnormal flattening and twisting of hair shafts (pili torti) and congenital sensorineural hearing loss but without any intellectual impairment. This disorder results from mutations in the BCS1L gene, a homolog of the Saccharomyces cerevisiae BCS1 protein crucial for the assembly of complex III in the mitochondrial respiratory chain.[5] Complex III produces reactive oxygen species to which hair follicles and inner ear cells are particularly sensitive, explaining hair changes and hearing loss as integral parts of this syndrome.

Individuals with Bjornstad syndrome usually have abnormally flattened, twisted hair shafts with dry, fragile, and lusterless scalp hair primarily on the back and sides of the head as observed in our patient, while eyelashes, eyebrows, armpit, and pubic hair are typically unaffected. Sensorineural hearing loss may be present at birth or develop during early infancy, ranging from mild to severe. Hypogonadism, muscle weakness, and seizures have also been observed.[6] In our specific case, we identified the presence of alopecia areata as an associated feature.

Currently, there are no specific treatment options for these uncommon cases of alopecia. The primary approach in managing these conditions is centered around alleviating symptoms to improve the overall quality of life.

In summary, we documented two cases of genotrichosis with distinctive features, the noteworthy aspect being the absence of commonly observed keratotic papules seen in congenital atrichia, and the presence of alopecia areata in a patient with Bjornstad syndrome. This emphasizes the critical importance of using trichoscope in the diagnosis of these disorders. Genetic analysis for both disorders was not possible due to financial constraints faced by the patients. Additionally, the perception among patients that there is no effective treatment for these conditions influenced their decision to avoid expensive diagnostics.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form a parent has given their consent for her images and other clinical information to be reported in the journal. The parent understand that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.