autosomal recessive woolly hair 3

Autosomal recessive woolly hair 3 (ARWH3) is a rare hereditary hair disorder characterized by fine, tightly curled hair that grows slowly and stops after a few inches [7]. The hair may be sparse and short, with a tendency to break easily.

This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. Carriers of the mutation, who have one copy of the mutated gene, are generally asymptomatic but can pass the mutation on to their offspring [15].

ARWH3 is often associated with other systemic diseases or can occur as an isolated trait. The exact cause of ARWH3 is not well understood, but it is believed to be related to mutations in genes that affect hair growth and development.

It's worth noting that there are different types of woolly hair disorders, including autosomal dominant and autosomal recessive forms, each with distinct characteristics [12]. However, the specific details of ARWH3 are not well documented, and more research is needed to fully understand this condition.

Based on the provided context, here are the signs and symptoms of Autosomal Recessive Woolly Hair Type III:

• Signs and symptoms similar to those of Type I, including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
• Milder hair and skin abnormalities compared to Type I
• The exact details of the symptoms for Type III are not explicitly mentioned in the provided context. However, it can be inferred that they are similar to those of Type I.

According to search result [3], Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder.

Based on the provided context, here are the diagnostic tests for Autosomal Recessive Woolly Hair 3 (ARWH3):

• Genetic testing: This is the most accurate way to diagnose ARWH3. Genetic testing can identify mutations in the KRT25 gene that cause the condition [1].
• Light microscopic examination of multiple hairs: This test can help confirm the diagnosis by examining the hair shafts under a microscope [14].
• Videodermoscopy (trichoscopy): This is a non-invasive technique that uses a dermatoscope to examine the hair and scalp for various conditions, including ARWH3 [14].

It's worth noting that while these tests can help diagnose ARWH3, they may not be widely available or covered by insurance. Consultation with a qualified physician is recommended for accurate diagnosis and treatment.

References: [1] Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene. [14] by M Mathur · 2019 · Cited by 10 — Diagnosis is clinical and aided by light microscopic examination of multiple hairs. Videodermoscopy of hair and scalp (trichoscopy) allows ...

Based on the provided context, the differential diagnosis for autosomal recessive woolly hair (ARWH) includes:

• Cardiofaciocutaneous syndrome: This is a rare genetic disorder that affects the development of the skin, heart, and facial features. It can present with similar symptoms to ARWH, such as sparse and tightly curled hair.
• Naxos disease: This is an autosomal recessive condition characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair (WH), and palmoplantar keratoderma. It shares some similarities with ARWH in terms of its genetic basis and clinical presentation.
• Palmoplantar keratoderma and cardiomyopathy syndrome: This is another autosomal recessive condition that affects the skin and heart, and can present with similar symptoms to ARWH.

These conditions are mentioned in search results [2], [7], [8], and [9] as potential differential diagnoses for ARWH. It's essential to consider these conditions when evaluating patients with suspected ARWH, as they may share some clinical features and require similar diagnostic approaches.

References: [2] [7] [8] [9]