pure hair and nail ectodermal dysplasia

Pure Hair and Nail Ectodermal Dysplasia: A Rare Genetic Disorder

Pure hair and nail ectodermal dysplasia is a rare congenital disorder characterized by the association of onychodystrophy (nail dystrophy) and severe hypotrichosis (hair loss), mainly limited to the scalp but may also affect the eyelashes and eyebrows. This condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

Key Features:

• Onychodystrophy: nail dystrophy or abnormality
• Severe hypotrichosis: significant hair loss, mainly on the scalp
• Autosomal dominant inheritance: a single copy of the mutated gene causes the disorder

Prevalence and Genetics: Less than 20 cases have been reported so far, indicating the rarity of this condition. The genetic basis of pure hair and nail ectodermal dysplasia is not well understood, but it is believed to be caused by mutations in specific genes involved in hair and nail development.

References:

• [1] Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. [from ORDO]
• [2] Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait. [2]
• [3] Ectodermal Dysplasias comprise a very heterogeneous group of phenotypes with more than 200 different forms described so far, but only about 20 have been associated with specific genes. Pure hair and nail ectodermal dysplasia is one such rare condition.

Characteristics of Pure Hair and Nail Ectodermal Dysplasia

Pure hair and nail ectodermal dysplasia is a rare genetic disorder characterized by the association of onychodystrophy (nail dystrophy) and severe hypotrichosis (hair loss). The symptoms manifest in early infancy and progress over time.

• Hair Loss: Severe hypotrichosis, mainly limited to the scalp but may also affect the eyelashes and eyebrows [1].
• Nail Abnormalities: Onychodystrophy, affecting all 20 digits, ranging from mild hair loss to complete atrichia (complete absence of hair) [3][7].
• Hair Texture: Hair is sparse, fine, and brittle, with alopecia (hair loss) being common [6].

These symptoms are typically present at birth or in early infancy and may worsen over time. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

References:

[1] Context result 1 [3] Context result 3 [6] Context result 6 [7] Context result 7

Diagnostic Tests for Pure Hair and Nail Ectodermal Dysplasia

Pure hair and nail ectodermal dysplasia is a rare genetic disorder characterized by the association of onychodystrophy (nail abnormalities) and severe hypotrichosis (hair loss), mainly limited to the scalp but may also affect the eyelashes and eyebrows. Diagnostic tests are essential for confirming this diagnosis.

Genetic Tests

According to [4] and [8], genetic tests can help confirm a doctor's diagnosis based on family history and physical symptoms observed. GeneTests, an online resource, identifies genetic tests for 60 types of ectodermal dysplasias, including pure hair and nail ectodermal dysplasia.

Molecular Genetic Tools

Causative genes associated with pure hair and nail ectodermal dysplasia include KRT85 [8]. Molecular genetic tools can be used to diagnose this condition by analyzing the KRT85 gene.

Diagnostic Teams

A diagnostic team for pure hair and nail ectodermal dysplasia may include dermatologists, geneticists, and other specialists [10].

Testing and Diagnosis

Testing often helps confirm a doctor's diagnosis based on family history and physical symptoms observed. Genetic tests can be ordered by a laboratory and interpreted by a healthcare provider.

References: [4] Ectodermal Dysplasias are characterized by abnormal development of two or more ectodermal structures, such as hair, nails, teeth and sweat glands without other systemic findings. [8] Ectodermal Dysplasia-Pure Hair and Nail - Diagnostic Tests. Molecular Genetic Tools. Causative genes. KRT85. Mutation Database. Causative genes. KRT85 [10] Learn about diagnosis and specialist referrals for Pure hair and nail ectodermal dysplasia. Feedback National Center for Advancing Translational Sciences; ... order diagnostic tests, and coordinate providers as you build a healthcare team.

Based on the available information, it appears that there are some potential treatment options for pure hair and nail ectodermal dysplasia.

• Topical minoxidil with or without a topical tretinoin has been shown to improve hair growth in a small number of patients [3]. This suggests that there may be some benefit to using these medications to promote hair growth.
• Lubricants such as petroleum jelly or lanolin can be massaged into the nails to reduce some of the dryness, brittleness, or cracking [11]. This may help to improve the appearance and health of the nails.

However, it's also worth noting that:

• At this time, no pharmacological treatment is available for pure hair and nail ectodermal dysplasia [7].
• Medications will treat secondary infections but will not correct the inborn nail defects [11].

It's also mentioned that topical cetirizine and oral vitamin D have been used as a valid treatment for hypotrichosis caused by ectodermal dysplasia, but it's unclear if this would be effective for pure hair and nail ectodermal dysplasia specifically [8].

Overall, while there may be some potential treatment options available, more research is needed to determine the most effective course of treatment for pure hair and nail ectodermal dysplasia.

References:

[3] - Use of topical minoxidil with or without a topical tretinoin has been shown to improve hair growth in a small number of patients. [7] - At this time, no pharmacological treatment is available for pure hair and nail ectodermal dysplasia. [8] - Topical cetirizine and oral vitamin D have been used as a valid treatment for hypotrichosis caused by ectodermal dysplasia. [11] - Lubricants such as petroleum jelly or lanolin can be massaged into the nails to reduce some of the dryness, brittleness, or cracking.

Pure hair and nail ectodermal dysplasia (PHNED) is a rare congenital disorder characterized by hypotrichosis (sparse or absent hair) and nail dystrophy without any other systemic findings. When considering the differential diagnosis for PHNED, several conditions should be taken into account.

• Alopecia Areata: This autoimmune condition can cause patchy hair loss, but it typically does not affect the nails.
• Aplasia Cutis Congenita: A rare congenital disorder characterized by the absence of skin at birth, which may also involve the scalp and hair follicles.
• Focal Dermal Hypoplasia Syndrome: A genetic condition that affects the development of skin, bones, and other tissues, but it can also cause hair loss and nail abnormalities.
• Incontinentia Pigmenti: A rare genetic disorder affecting the skin, hair, nails, teeth, and central nervous system. It can cause hair loss and nail dystrophy, among other symptoms.
• Naegeli-: This condition is characterized by a combination of alopecia, nail dystrophy, and other systemic findings.

These conditions should be considered in the differential diagnosis for PHNED, as they share some similar clinical features. However, it's essential to note that PHNED is a distinct entity with its unique characteristics.

References:

• [3] Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp.
• [5] Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has been associated with mutations in the HOXC13 gene.
• [8] Pure hair-nail type ectodermal dysplasia has been demonstrated to be caused by mutations in 2 different genes to date: HOXC13 and other genes such as KRT16, KRT17.