Advertisements

Preteen Girl’s Lifelong Struggle with Fragile Hair Leads to Rare Diagnosis

by Madonna

A young girl has faced hair loss and patchy bald spots since infancy, prompting her parents to seek medical advice as the issue persisted into her preteen years. Clinicians from the University of Campania Luigi Vanvitelli in Naples, Italy, Dr. Vincenzo Piccolo and Dr. Giuseppe Argenziano, detailed her case in JAMA Dermatology, highlighting the unique characteristics and diagnosis of her condition.

During a family history assessment, doctors discovered that one of her parents also experiences similar hair loss issues, though they were never formally diagnosed. A clinical exam showed the girl had sparse, fragile hair, especially prone to breaking. Thinning patches were most noticeable at the back of her head, and her scalp was dotted with follicular papules.

Advertisements

A trichoscopic examination provided further insight, revealing a distinctive “beaded” pattern along the hair shaft. This pattern—featuring dark and pale elliptical nodes along the hair—prompted doctors to diagnose her with monilethrix, a rare genetic condition that results in hair fragility and loss.

Advertisements

Understanding Monilethrix: Causes and Characteristics

Monilethrix, sometimes called “necklace hair” or “beaded hair,” derives its name from the Latin word monile (necklace) and Greek thrix (hair). This congenital disorder is usually inherited in an autosomal-dominant pattern and is linked to specific gene mutations in KRT81, KRT83, or KRT86, which affect type 2 hair keratins. In rarer cases, a DSG4 gene mutation can lead to recessive monilethrix. Recently, a mutation in the KRT31 gene has also been associated with the condition.

Advertisements

The disorder disrupts keratin production, creating tiny nodes in the hair shaft separated by fragile, thin sections. This results in easily breakable hair, often short and patchy. In this case, the girl’s parents chose to forego genetic testing due to the clear presentation of monilethrix features and her father’s similar hair pattern.

Advertisements

Monilethrix generally appears within months after birth, once terminal hairs replace the soft lanugo hairs. These short, brittle strands—especially noticeable at the back of the head—can give a “stubbly” look due to frequent breakage.

Clinical Presentation and Diagnosis Through Trichoscopy

Trichoscopy is key to diagnosing monilethrix, as it highlights the characteristic nodes along the hair shaft, interspersed by thin, fragile segments. According to Piccolo and Argenziano, trichoscopy not only confirms monilethrix but also helps rule out similar conditions like pili torti, trichorrhexis nodosa, and pseudomonolethrix.

Hair fragility in monilethrix patients sometimes extends beyond the scalp, affecting eyelashes, eyebrows, and other body hair. Some severe cases have been linked to broader health issues, including nail deformities and congenital abnormalities such as Holt-Oram syndrome.

Management and Potential for Improvement

Though there’s currently no definitive cure, some patients experience improvements during puberty or pregnancy. Patients with monilethrix are advised to avoid hair trauma, including harsh styling practices and prolonged sun exposure, as these can worsen hair fragility.

Piccolo and Argenziano suggest that protective hair care is one of the most effective management strategies. While treatments like systemic retinoids (e.g., acitretin) and topical minoxidil have shown some potential, results vary widely, and the condition rarely resolves fully.

For those with monilethrix, understanding the need for gentle hair care and realistic expectations regarding treatment can provide a path forward in managing this rare genetic disorder.

Related topics:

Advertisements

You may also like

blank
Hairhealthtips is a hair transplant portal for hair loss. The main columns are hair loss, hair care, hair transplant, knowledge, news, etc. 【Contact us: [email protected]

© 2023 Copyright  hairhealthtips.com