Aggressive Periodontitis and Palmoplantar Keratoderma: Papillon-Lefèvre Syndrome in an 11-Year-Old Nepalese Girl. [PDF]
Clin Case RepABSTRACT Papillon–Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar keratoderma and aggressive periodontitis. We report an 11‐year‐old Nepalese girl presenting with severe periodontal destruction and characteristic cutaneous manifestations. Clinical and radiographic findings established the diagnosis.
Bhattarai J +3 more
europepmc +2 more sources
Immunohistochemical characteristics of inducible nitric oxide synthase and estrogen receptors alpha expression in patients with keratoderma climactericum [PDF]
Zaporožskij Medicinskij Žurnal, 2022 Aim. To examine the characteristics of immunohistochemical expression of inducible nitric oxide synthase and estrogen receptors alpha in patients with keratoderma climactericum compared to postmenopausal women with clinically intact skin, to reveal ...
H. I. Makurina +4 more
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Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma [PDF]
Case Reports in Medicine, 2010 Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles. Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature. We report a
Sara Lestre +3 more
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Clinical case of a rare form of congenital localized keratoderma [PDF]
Саратовский научно-медицинский журнал, 2016 There a case of a rare form of congenital localized keratoderma is presented. The described case shows an inherited congenital localized keratoderma in an autosomal dominant pattern, associated with the fungal infection ...
Slesarenko N.A. +4 more
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Epidermolysis Bullosa Classification and Current Approach to Diagnosis. [PDF]
Pediatr DermatolABSTRACT Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin.
Mumber HE, Perman MJ.
europepmc +2 more sources
Severe hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome) [PDF]
Przegląd Dermatologiczny, 2015 Introduction. Keratoderma of the hands and feet is a chronic disorder of epidermal keratinization, which consists of many various forms. Objective. To present a case of a 54-year-old woman with severe hereditary punctate palmoplantar keratoderma.
Dorota Jaśkiewicz-Nyckowska +3 more
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Palmoplantar keratoderma climactericum successfully treated with topical oestrogen
JEADV Clinical PracticeKeratoderma climactericum is characterized by palmoplantar hyperkeratosis developing after the onset of menopause. Although rare, keratoderma climactericum can profoundly impact quality of life and may be refractory to prescription‐strength topical ...
Thomas Norman
exaly +2 more sources
Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum. [PDF]
Mol Genet Genomic MedWe report a case of a 22‐year‐old woman with predominantly cutaneous involvement in whom whole‐exome sequencing from both blood‐ and hair‐derived DNA samples identified somatic mosaicism for the rare HRAS p.Gly13Asp variant. This case expands the phenotypic spectrum of Costello syndrome and underscores the importance of multitissue genomic analysis ...
Lalosevic J +6 more
europepmc +2 more sources
Spiny keratoderma: The gritty tale
Indian Journal of Dermatopathology and Diagnostic Dermatology, 2018 Spiny keratoderma is a rare disease; first described by Brown as “punctuate keratoderma”. It is characterized by asymptomatic keratotic pin point papules over palms and soles, resembling the old fashioned music box spine.
Astuty Apurwa +3 more
doaj +2 more sources
Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Indian Dermatology Online Journal, 2016 Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala +2 more
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