atrichia with papular lesions

Atrichia with papular lesions (APL) is a rare and autosomal recessive form of irreversible alopecia, characterized by complete hair loss on the scalp, eyebrows, eyelashes, axillary, and pubic areas. This condition typically presents at birth or within the first few months of life.

The hair loss in APL is often accompanied by the development of papular lesions, which are keratin-filled cysts that appear on various parts of the body. These lesions can be itchy and may cause discomfort for some individuals.

APL is caused by a mutation in the Zinc finger domain of the human hairless gene on chromosome region 8p12. This genetic mutation leads to the complete loss of hair follicles, resulting in the characteristic alopecia associated with this condition.

It's worth noting that APL is a rare and irreversible form of alopecia, meaning that once it occurs, it cannot be reversed or treated. However, the exact prevalence and incidence rates of APL are not well-documented in medical literature.

Sources:

• [1] Atrichia with papular lesions (APL) is a rare autosomal recessive form of irreversible alopecia with onset at few months of age with papular keratin cysts over the body. It is associated with mutation in the Zinc finger domain of the human hairless gene on chromosome region 8p12.
• [5] Atrichia with papular lesions is a rare autosomal recessive condition characterized by complete irreversible hair loss during the first months of life.
• [7] Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the ...
• [15] Sir, Atrichia with papular lesions (APL) is a rare form of total alopecia followed by eruptions of papular lesions on the skin.

Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by the development of papular lesions.

Early Signs:

• Total hair loss on all hair-bearing areas of the body, which can occur within the first months of life [1].
• Absence of scalp hair after its shedding within the first months of life [2].

Papular Lesions:

• Development of a diffuse papular rash over the entire body, which can occur years later [4].
• Keratotic papules have been reported in some cases [8].

Other Symptoms:

• Alopecia universalis, which is the complete loss of hair on the body [8].
• The condition is characterized by irreversible hair loss and widespread papular lesions [3][6].

It's worth noting that APL is a rare autosomal recessive disease, often emerging shortly after birth as sudden, irreversible hair loss [9].

Diagnostic Tests for Atrichia with Papular Lesions

Atrichia with papular lesions (APL) is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body [7]. Diagnosing APL can be challenging, but several diagnostic tests and criteria have been proposed to aid in its identification.

Clinical Diagnosis

The clinical diagnosis of APL involves a combination of physical examination, medical history, and laboratory tests. The following criteria have been proposed for the clinical diagnosis of APL:

• Total alopecia on all hair-bearing areas of the body [3]
• Presence of papular lesions on the skin [2]
• Absence of other causes of alopecia, such as alopecia universalis or vitamin-D-dependent rickets [5]

Genetic Testing

Genetic testing is considered the gold standard for diagnosing APL. It can clearly distinguish APL from other forms of alopecia and identify mutations in the hairless (hir) gene [1]. Genetic testing involves analyzing DNA samples to detect specific genetic mutations associated with APL.

Trichoscopy and Histopathological Examination

Trichoscopy, a non-invasive imaging technique, can help diagnose APL by visualizing the characteristic changes in hair follicles and skin lesions. Histopathological examination of skin biopsies can also aid in diagnosing APL by identifying specific histological features [9].

Other Diagnostic Tests

While not specifically mentioned as diagnostic tests for APL, other tests such as blood tests to rule out underlying conditions like vitamin-D-dependent rickets may be performed.

In conclusion, the diagnosis of atrichia with papular lesions involves a combination of clinical evaluation, genetic testing, trichoscopy, and histopathological examination. These diagnostic tests can help identify specific mutations in the hairless (hir) gene and characteristic changes in hair follicles and skin lesions associated with APL.

References:

[1] by A Zlotogorski · 2001 · Cited by 26 [2] by A Zlotogorski · 2002 · Cited by 95 [3] To clarify this discrepancy, we propose criteria for the clinical diagnosis of congenital atrichia with papular lesions. Among these is the novel report of the ... [5] Genetic testing is the gold standard for diagnosis, since it can clearly distinguish alopecia universalis and vitamin-D-dependent rickets from APL. [7] A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated ... [9] by J Boisen · 2022 — The patient was offered treatment with topical tretinoin 0.05% cream to reduce milia-like lesions. The patient followed up via telephone ...

Atrichia with papular lesions (APL) is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hair-bearing skin [6]. While there are no specific treatments for APL, some cases have been reported to respond to topical tretinoin 0.05% cream, which can help reduce milia-like lesions [3].

However, it's essential to note that treatment of APL is often challenging and may not be effective in all cases. In one reported case, the patient was unresponsive to therapy with topical steroids [8]. Therefore, a comprehensive evaluation by a qualified specialist is necessary to determine the best course of action for each individual.

In general, treatment of APL should focus on managing symptoms and preventing complications rather than reversing hair loss. Topical treatments may be used to reduce milia-like lesions or other skin manifestations, but they are not a cure for the condition [3].

It's also worth noting that APL is often associated with other systemic conditions, such as common variable immunodeficiency, which may require additional treatment and management [5]. Therefore, a multidisciplinary approach involving dermatologists, immunologists, and other specialists may be necessary to provide comprehensive care.

In summary, while there are no specific treatments for atrichia with papular lesions, topical tretinoin 0.05% cream may be used to reduce milia-like lesions in some cases. However, treatment should be individualized and managed by a qualified specialist to ensure the best possible outcomes.

References: [3] - The patient was offered treatment with topical tretinoin 0.05% cream to reduce milia-like lesions. [5] - We report a case of atrichia with papular lesions in association with common variable immunodeficiency in an 11-year-old boy. [6] - Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hair-bearing skin. [8] - Her alopecia was unresponsive to therapy.

Atrichia with papular lesions (APL) is a rare autosomal recessive syndrome characterized by irreversible hair loss and widespread papular lesions [8]. The differential diagnosis of APL includes:

• Alopecia universalis: This condition is often misdiagnosed as APL, despite the presence of well-defined clinical features [4].
• Vitamin D-dependent rickets type II (same phenotype, mutation in the VDR): This condition can present with alopecia and alopecia universalis, making it an important differential diagnosis for APL [3].
• Congenital hypotrichosis: This is a rare congenital condition characterized by sparse or absent hair, which can be confused with APL [2].
• Ectodermal dysplasia: This is a group of disorders that affect the development of ectodermal structures, including hair, nails, and teeth. It can present with alopecia and other skin lesions, making it a differential diagnosis for APL [5].

It's worth noting that the differential diagnoses considered for patients with APL often include Alopecia universalis, Vitamin D dependent rickets type II, Ectodermal dysplasia, and Congenital hypotrichosis [5].