title: Hanging on by a thread: a rare case of secondary pseudoainhum.
abstract: 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.
authors.affiliation: Department of Orthopaedics and Trauma, Luton & Dunstable University Hospital, Luton, UK.
authors.forename: Leo
authors.initials: L
authors.lastname: Arkush
authors.affiliation: Dermatology Department, Luton & Dunstable University Hospital, Luton, UK.
authors.forename: Bernadette
authors.initials: B
authors.lastname: De Silva
authors.affiliation: Department of Orthopaedics and Trauma, Luton & Dunstable University Hospital, Luton, UK.
authors.forename: David
authors.initials: D
authors.lastname: Gordon
mesh_terms: D000387:Ainhum / Q000175:diagnosis* / Q000235:genetics; D003251:Constriction, Pathologic / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications*; D008297:Male; D010014:Osteolysis / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities*; D055815:Young Adult
references.citation: J Bone Joint Surg Br. 1965 Feb;47:43-51
references.pmid: 14296245
references.citation: J Bone Joint Surg Br. 1965 Feb;47:52-5
references.pmid: 14296246
references.citation: J Foot Ankle Surg. 2002 Nov-Dec;41(6):372-8
references.pmid: 12500788
references.citation: Hum Mutat. 2012 Dec;33(12):1656-64
references.pmid: 22753090
references.citation: Br J Dermatol. 2003 Nov;149(5):1064-6
references.pmid: 14632817
references.citation: Int J Dermatol. 2010 Jan;49(1):79-82
references.pmid: 20465619
references.citation: Arch Dermatol. 1964 Jul;90:12-4
references.pmid: 14149713
references.citation: J Am Acad Dermatol. 1982 Jul;7(1):130-2
references.pmid: 7107993
references.citation: Br J Dermatol. 2009 Aug;161(2):452-5
references.pmid: 19416251
references.citation: J Eur Acad Dermatol Venereol. 2007 Jul;21(6):732-7
references.pmid: 17567298
references.citation: Br J Dermatol. 1993 Feb;128(2):207-12
references.pmid: 8457455
references.citation: Am J Med Genet A. 2010 Aug;152A(8):2043-7
references.pmid: 20635335
references.citation: Indian J Dermatol. 2011 Sep-Oct;56(5):591-3
references.pmid: 22121289
references.citation: Clin Exp Dermatol. 2002 Nov;27(8):673-6
references.pmid: 12472544
references.citation: Clin Exp Dermatol. 2002 May;27(3):243-6
references.pmid: 12072018