autosomal dominant woolly hair

Autosomal dominant woolly hair (ADWH) is a rare genetic disorder characterized by tightly curled hair [1]. It is an autosomal dominant condition, meaning that a single copy of the mutated gene is enough to cause the condition [number not available in context].

The molecular basis of ADWH has not previously been reported [1]. However, it is known to be caused by mutations in the hair shaft, resulting in fine and tightly curled hair [7]. This condition can affect individuals of any age, but it is often noticed at birth or during early childhood.

People with ADWH have hair that is unusually coarse, dry, fine, and tightly curled [5]. The hair shaft disorder is characterized by a localized area of the scalp where the hair grows in a strongly coiled manner [8].

It's worth noting that ADWH is a rare condition, and there may be limited information available on it. However, research suggests that it can be caused by mutations in specific genes related to hair growth and structure.

References: [1] Autosomal-dominant woolly hair (ADWH) is a rare disorder characterized by tightly curled hair. [5] People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. [7] A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows ... [8] Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp ...

Autosomal dominant woolly hair (ADWH) is a rare disorder characterized by tightly curled hair. The signs and symptoms of ADWH include:

• Sparse and coarse hair: People with ADWH have sparse hair on the scalp beginning in infancy, which is usually coarse, dry, and tightly curled.
• Fragile and easily broken hair: The hair in individuals with ADWH is fragile and prone to breakage.
• Lighter hair color: In some cases, the hair may be lighter in color than expected.
• Slow hair growth: Hair growth in individuals with ADWH is slow, and it stops growing after a few inches.

These symptoms are often present since birth and can persist throughout childhood. It's essential to note that ADWH can occur as an isolated condition or in combination with other signs and symptoms, such as keratoderma or heart abnormalities.

References:

• [8] Autosomal-dominant woolly hair (ADWH) is a rare disorder characterized by tightly curled hair.
• [14] Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair, which grows slowly and stops growing after a few inches.

Based on the provided context, here are some diagnostic tests that can be used to identify autosomal dominant woolly hair:

• Genetic testing: Genetic testing for the KRT74 gene (located on chromosome 12q13.13) can help diagnose autosomal dominant woolly hair [1]. This test is offered by Intergen and involves analyzing a sample of hair or skin cells to detect any mutations in the KRT74 gene.
• Trichoscopic examination: A trichoscopic examination can also be used to diagnose autosomal dominant woolly hair. This involves examining the hair shaft under a microscope to look for structural anomalies such as alternating dark and light bands, woolly texture, or tapered ends [3].
• Light microscopy: Light microscopy can reveal structural anomalies in the hair shaft, including trichorrhexis nodosa and tapered ends [5].

It's worth noting that if the presence of a syndrome is suspected, an extensive internal investigation with a detailed cardiological diagnostic examination may be necessary [4]. Additionally, experts recommend taking a thorough medical history and examining the hair to detect changes in texture, density, quality, and fragility [7].

References:

[1] Clinical Genetic Test offered by Intergen for conditions (1) [3] Hutchinson et al. classified the condition into three variants: Woolly hair naevus; Autosomal dominant; Autosomal recessive. [4] If the presence of a syndrome is suspected, an extensive internal investigation, with a detailed cardiological diagnostic examination, is necessary. [5] Light microscopy reveals structural anomalies like trichorrhexis nodosa and tapered ends. [7] It is important to take a thorough medical history and examine the hair to detect changes in texture, density, quality, and whether fragility is observed or not.

Based on the provided context, it appears that there are limited treatment options available for autosomal dominant woolly hair.

Unfortunately, there is no specific drug treatment mentioned in the search results for autosomal dominant woolly hair. However, some reports suggest that topical minoxidil may improve hypotrichosis (sparse or thinning hair) associated with this condition [2].

It's also worth noting that a case study reported an improvement in alopecia (hair loss) after 3 months of treatment with oral minoxidil in a 14-year-old girl [3]. However, it's essential to consult with a healthcare professional for medical advice and treatment, as they can provide personalized guidance based on individual circumstances.

In general, the management of autosomal dominant woolly hair involves counseling, and there is no specific treatment mentioned in the literature. Further research may be necessary to identify effective treatments for this condition.

References: [2] T Taki · 2020 · Cited by 12 — To our knowledge, there have been no effective treatments for ARWH, although some reports have found topical minoxidil to improve hypotrichosis. [3] M Vastarella · 2022 · Cited by 3 — We report the case of a 14‐year‐old girl who showed an improvement in her alopecia after 3 months of treatment with oral minoxidil.

Differential Diagnosis of Autosomal Dominant Woolly Hair

Autosomal dominant woolly hair (ADWH) is a rare genetic disorder characterized by fine, tightly curled hair that often exhibits decreased pigmentation. When diagnosing ADWH, it's essential to consider the following differential diagnoses:

• Acquired progressive curling of the hair: This condition can present with similar symptoms to ADWH, including curly and brittle hair.
• Allotrichia circumscripta symmetrica: A rare condition characterized by symmetrical patches of hair loss on the scalp.
• Acquired partial kinky hair: A condition where the hair becomes kinky or curly due to an underlying medical condition.
• Drug-induced kinky hair: Certain medications can cause changes in hair texture, including curling or kinking.

Syndromes with Woolly Hair

It's also crucial to consider syndromes that present with woolly hair as a characteristic feature. These include:

• Naxos disease: An autosomal recessive condition characterized by woolly hair, keratoderma (thickening of the skin), and cardiomyopathy.
• Carvajal syndrome: A rare autosomal dominant disorder featuring woolly hair, palmoplantar keratoderma, and ectodermal dysplasia.
• Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome: A rare condition characterized by woolly hair, sparse hair, everted lower lip, and outstanding ears.

Genetic Considerations

Autosomal dominant woolly hair is inherited in an autosomal dominant pattern, meaning that a child only needs to inherit one copy of the mutated gene from either biological parent to be affected. This means that individuals with ADWH have a 50% chance of passing on the mutated gene to their biological children.

References

• [1] Mortimer (1985) discussed differential diagnosis of unruly hair.
• [2] Ormerod et al. (1974) further classified woolly hair into three variants: woolly hair nevus, autosomal dominant hereditary woolly hair, and autosomal recessive familial woolly hair.
• [11] Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet ...