familial woolly hair syndrome

Familial woolly hair syndrome, also known as hereditary woolly hair syndrome, is a rare congenital skin disease characterized by extreme kinkiness of the hair. The hair is difficult to brush, grows slowly, and may be sparse.

Key Features:

• Hair Texture: Fine, tightly curled, and coiled hair that is often poorly pigmented.
• Growth Rate: Hair growth is slow, and it may stop growing after a few inches.
• Shaft Diameter: Marked reduction in the diameter of hair shafts.
• Distribution: Woolly hair can either be present at birth or appear in the first months of life. It can affect the entire scalp (generalized distribution) or be localized to a specific area (circumscribed distribution).

Subtypes:

Familial woolly hair syndrome has three subtypes:

1. Hereditary woolly hair (HWH): Autosomal dominant inheritance.
2. Familial woolly hair (FWH): Autosomal recessive inheritance.
3. Woolly hair nevus (WHN): A localized form of the condition.

Prevalence:

Woolly hair syndrome is a rare condition, and its prevalence is not well-documented. However, it is commonly seen in Caucasians and Asians.

References:

• [1] Description of woolly hair as a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.
• [2-5] Clinical descriptions of familial woolly hair syndrome, highlighting its rarity and characteristics.
• [6-7] Discussion of woolly hair syndrome as a group of disorders involving structural defects in hair shaft without any increase in fragility.
• [8-10] Definition and description of woolly hair syndrome, including its subtypes and modes of inheritance.
• [11-15] Further classification and description of woolly hair syndrome, including its prevalence and characteristics.

Familial woolly hair syndrome, also known as autosomal recessive woolly hair, is a rare genetic disorder that affects the structure of the scalp hair. The main signs and symptoms of this condition include:

• Sparse, short, curly hair: Individuals with familial woolly hair syndrome typically have sparse, short, and tightly coiled hair on their scalp [4].
• Woolly or kinky hair: The hair is often described as being extremely kinky or woolly in texture [3][6].
• Light-colored hair: In some cases, the hair may be lighter in color than expected [6].
• Slow hair growth: Hair growth is typically slow in individuals with familial woolly hair syndrome [9].

It's worth noting that these symptoms can vary in severity and presentation from one individual to another. Additionally, familial woolly hair syndrome may also be associated with other signs and symptoms, such as brittle or fine hair, and slow hair growth.

References: [3] - Context result 3 [4] - Context result 4 [6] - Context result 6 [9] - Context result 9

Based on the provided context, it appears that diagnostic tests for familial woolly hair syndrome are not explicitly

The differential diagnosis for familial woolly hair syndrome includes several conditions that can present with similar symptoms. These include:

• Acquired progressive curling of the hair
• Allotrichia circumscripta symmetrica (a condition characterized by patchy hair loss)
• Acquired partial kinky hair (a condition where the hair becomes curly or kinky due to an underlying medical condition)
• Drug-induced kinky hair (hair that becomes curly or kinky as a result of taking certain medications)

Additionally, syndromes with woolly hair should also be excluded, such as:

• Naxos disease (an autosomal recessive condition characterized by woolly hair, palmoplantar keratoderma, and cardiomyopathy)
• Carvajal syndrome (a rare genetic disorder that affects the skin and hair)
• Woolly-hair-hypotrichosis-everted lower lip-outstanding ears syndrome (a rare genetic disorder characterized by woolly hair, hypotrichosis, everted lower lip, and outstanding ears)

It's worth noting that a diagnosis of familial woolly hair syndrome should be made based on a thorough medical history, physical examination, and investigations. A correct diagnosis is essential to ensure proper treatment and management of the condition.

References:

• [1] Differential diagnosis includes acquired progressive curling of the hair, allotrichia circumscripta symmetrica, acquired partial kinky hair and drug-induced kinky hair. Syndromes with woolly hair should also be excluded, such as Naxos disease ...
• [5] by P Pavone · 2017 · Cited by 12 — Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp ...
• [15] Differential diagnosis includes acquired progressive curling of the hair, allotrichia circumscripta symmetrica, acquired partial kinky hair and drug-induced kinky hair. Syndromes with woolly hair should also be excluded, such as Naxos disease, Carvajal syndrome, Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome, woolly-hair ...