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Keratosis Punctata of Palmar Creases.
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Gupta Hospital, Dhamtari, Chhattisgarh, India.
X-linked genodermatoses from diagnosis to tailored therapy.
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MAGI's LAB, Rovereto, Italy.
Article Synopsis
- Genodermatoses are rare genetic skin disorders that can severely affect an individual's health and may result in early mortality due to their multiorgan involvement.* -
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Ichthyotic skin lesions of Conradi-Hünermann-Happle syndrome successfully treated with dupilumab.
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Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
"African" acral keratoderma: Further evidence for a single entity. A retrospective study of 42 patients.
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Department of Dermatology, APHP, Saint-Louis Hospital, 75010 Paris, France.
Article Synopsis
- - The study explores various phenotypes of non-inflammatory palmar and plantar keratoderma (PPK) prevalent in Sub-Saharan African patients, proposing they might collectively be known as "African Acral Keratoderma" (AAK).
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Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Pediatr Dermatol
March 2023
Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Mexico.
Conradi-Hünermann-Happle syndrome (CHHS) is a rare genodermatosis resulting from mutations in the EBP (emopamil binding protein) gene. Dermatologic manifestations may include cicatricial alopecia, ichthyosis, follicular atrophoderma, pigmentary abnormalities, and nail dystrophy. In addition to genetic testing and clinical findings, trichoscopic findings may aid in the diagnosis.
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