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Journal of the European Academy of... Dec 2019
Topics: Ainhum; Amniotic Band Syndrome; Child, Preschool; Constriction, Pathologic; Diagnosis, Differential; Face; Female; Humans
PubMed: 31222806
DOI: 10.1111/jdv.15757 -
The Journal of Investigative Dermatology Jan 2015Keratodermas comprise a heterogeneous group of highly debilitating and painful disorders characterized by thickening of the skin with marked hyperkeratosis. Some of...
Keratodermas comprise a heterogeneous group of highly debilitating and painful disorders characterized by thickening of the skin with marked hyperkeratosis. Some of these diseases are caused by genetic mutation, whereas other forms are acquired in response to environmental factors. Our understanding of signaling changes that underlie these diseases is limited. In the present study, we describe a keratoderma phenotype in mice in response to suprabasal epidermis-specific inhibition of activator protein 1 transcription factor signaling. These mice develop a severe phenotype characterized by hyperplasia, hyperkeratosis, parakeratosis, and impaired epidermal barrier function. The skin is scaled, constricting bands encircle the tail and digits, the footpads are thickened and scaled, and loricrin staining is markedly reduced in the cornified layers and increased in the nucleus. Features of this phenotype, including nuclear loricrin localization and pseudoainhum (autoamputation), are characteristic of the Vohwinkel syndrome. We confirm that the phenotype develops in a loricrin-null genetic background, indicating that suppressed suprabasal AP1 factor function is sufficient to drive this disease. We also show that the phenotype regresses when suprabasal AP1 factor signaling is restored. Our findings suggest that suppression of AP1 factor signaling in the suprabasal epidermis is a key event in the pathogenesis of keratoderma.
Topics: Abnormalities, Multiple; Ainhum; Animals; Constriction, Pathologic; Epidermis; Female; Hand Deformities, Congenital; Hearing Loss, Sensorineural; Keratoderma, Palmoplantar; Male; Membrane Proteins; Mice, Mutant Strains; Phenotype; Signal Transduction; Transcription Factor AP-1
PubMed: 25050598
DOI: 10.1038/jid.2014.310 -
The Journal of Rheumatology Nov 2016
Topics: Ainhum; Arthralgia; Constriction, Pathologic; Female; Fingers; Follow-Up Studies; Humans; Middle Aged; Monitoring, Physiologic; Pain Measurement; Scleroderma, Systemic; Severity of Illness Index
PubMed: 27803345
DOI: 10.3899/jrheum.160239 -
BMJ Case Reports Feb 2016Pseudoainhum is a rare and poorly characterised phenomenon involving autoamputation of a digit associated with an identifiable or related disease process. We describe...
Pseudoainhum is a rare and poorly characterised phenomenon involving autoamputation of a digit associated with an identifiable or related disease process. We describe the case of a 19-year-old man with long-standing neurodisability, sensorineural hearing loss and severe keratoderma, presenting with painless rapidly-progressing autoamputation of his left little toe. Genetic analysis thus far has been inconclusive. The toe appeared to be hanging on by a thread, with no clinical signs of infection. Radiographs showed lysis with complete resorption of the proximal phalynx. Routine blood tests found an isolated neutropenia with normal C reactive protein and biochemistry. We report an unusual case of a young adult with a history of chronic neurological and dermatological problems presenting with secondary pseudoainhum and provide a valuable addition to the limited literature describing this rare condition.
Topics: Ainhum; Constriction, Pathologic; Developmental Disabilities; Hearing Loss, Sensorineural; Humans; Keratoderma, Palmoplantar; Male; Osteolysis; Toes; Young Adult
PubMed: 26838543
DOI: 10.1136/bcr-2015-213854 -
Clinical and Experimental Dermatology Jun 2019
Topics: Ainhum; Constriction, Pathologic; Hand Dermatoses; Humans; Male; Membrane Proteins; Middle Aged; Skin Diseases, Genetic; Skin Transplantation
PubMed: 30264492
DOI: 10.1111/ced.13770 -
International Journal of Dermatology Dec 2019
Topics: Ainhum; Female; Humans; Middle Aged; Nepal; Radiography; Toe Phalanges
PubMed: 31556107
DOI: 10.1111/ijd.14662 -
Indian Journal of Dermatology,... 2017
Topics: Ainhum; Amputation, Traumatic; Constriction, Pathologic; Female; Fingers; Humans; Ichthyosis, Lamellar; Infant; Toes
PubMed: 28936990
DOI: 10.4103/ijdvl.IJDVL_56_17 -
Indian Journal of Dermatology,... 2014
Topics: 5-alpha Reductase Inhibitors; Ainhum; Callosities; Color; Constriction, Pathologic; Dutasteride; Educational Measurement; Finasteride; Glomus Tumor; Humans; Hyperpigmentation; Lichen Planus; Mastocytoma; Pemphigoid, Bullous; Phototherapy; Pityriasis Rosea; Skin Diseases; Skin Neoplasms; Sweat Gland Diseases; Warts
PubMed: 25543337
DOI: 10.4103/0378-6323.144226 -
Indian Journal of Dermatology,... 2014
Topics: Acitretin; Adolescent; Ainhum; Constriction, Pathologic; Female; Humans; Keratolytic Agents; Skin Diseases, Genetic; Toes
PubMed: 25382531
DOI: 10.4103/0378-6323.144220 -
The Pan African Medical Journal 2014
Topics: Adult; Ainhum; Amputation, Surgical; Humans; Male
PubMed: 25667722
DOI: 10.11604/pamj.2014.19.60.4839