Literature DB >> 6232299

Keratosis punctata palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate keratoderma and gastrointestinal malignancy.

S D Bennion, J W Patterson.   

Abstract

We report a patient with keratosis punctata palmaris et plantaris who developed adenocarcinoma of the colon. Family history revealed at least seven other individuals with punctate keratoderma. The patient's mother had punctate keratoderma and carcinoma of the colon, and his maternal grandfather had punctate keratoderma and carcinoma of the pancreas. This is the third reported family, to our knowledge, in which hereditary palmar and plantar hyperkeratosis appears to be associated with gastrointestinal carcinomas.

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Year:  1984        PMID: 6232299     DOI: 10.1016/s0190-9622(84)80262-5

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  5 in total

1.  Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

Authors:  A Martinez-Mir; A Zlotogorski; D Londono; D Gordon; A Grunn; E Uribe; L Horev; I M Ruiz; N O Davalos; O Alayan; J Liu; T C Gilliam; J C Salas-Alanis; A M Christiano
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318

2.  Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

Authors:  Kathrin A Giehl; Gertrud N Eckstein; Sandra M Pasternack; Silke Praetzel-Wunder; Thomas Ruzicka; Peter Lichtner; Kerstin Seidl; Mike Rogers; Elisabeth Graf; Lutz Langbein; Markus Braun-Falco; Regina C Betz; Tim M Strom
Journal:  Am J Hum Genet       Date:  2012-09-20       Impact factor: 11.025

3.  Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.

Authors:  Elizabeth Pöhler; Mozheh Zamiri; Catriona P Harkins; Julio C Salas-Alanis; William Perkins; Frances J D Smith; W H Irwin McLean; Sara J Brown
Journal:  J Invest Dermatol       Date:  2013-06-06       Impact factor: 8.551

4.  Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.

Authors:  Megan Furniss; Claire A Higgins; Amalia Martinez-Mir; Liran Horev; Lynn Petukhova; Andrija Stanimirović; Jovan Miljković; Abraham Zlotogorski; Angela M Christiano
Journal:  J Invest Dermatol       Date:  2014-01-03       Impact factor: 8.551

5.  Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Authors:  Elizabeth Pohler; Ons Mamai; Jennifer Hirst; Mozheh Zamiri; Helen Horn; Toshifumi Nomura; Alan D Irvine; Benvon Moran; Neil J Wilson; Frances J D Smith; Christabelle S M Goh; Aileen Sandilands; Christian Cole; Geoffrey J Barton; Alan T Evans; Hiroshi Shimizu; Masashi Akiyama; Mitsuhiro Suehiro; Izumi Konohana; Mohammad Shboul; Sebastien Teissier; Lobna Boussofara; Mohamed Denguezli; Ali Saad; Moez Gribaa; Patricia J Dopping-Hepenstal; John A McGrath; Sara J Brown; David R Goudie; Bruno Reversade; Colin S Munro; W H Irwin McLean
Journal:  Nat Genet       Date:  2012-10-14       Impact factor: 38.330

  5 in total

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