Literature DB >> 3053803

Pachyonychia congenita.

A Feinstein1, J Friedman, M Schewach-Millet.   

Abstract

Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and mucous membranes. A thorough literature survey since its first description in 1904 up to 1985 revealed 168 cases of pachyonychia congenita. There were no indications of any sex or ethnic group predilection. Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and steatocystoma multiplex; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.

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Mesh:

Year:  1988        PMID: 3053803     DOI: 10.1016/s0190-9622(88)70226-1

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


  11 in total

Review 1.  Steatocystoma simplex of the caruncle.

Authors:  J Bowyer; T Sullivan; K Whitehead
Journal:  Br J Ophthalmol       Date:  2003-02       Impact factor: 4.638

2.  A "crackleware" oesophagus.

Authors:  M Westerterp; O R C Busch; J J G H M Bergman; F J W Ten Kate; J J B van Lanschot
Journal:  J Clin Pathol       Date:  2005-12       Impact factor: 3.411

3.  Abnormal births and other "ill omens" : The adaptive case for infanticide.

Authors:  C M Hill; H L Ball
Journal:  Hum Nat       Date:  1996-12

Review 4.  Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.

Authors:  A G Zieman; P A Coulombe
Journal:  Br J Dermatol       Date:  2019-07-24       Impact factor: 9.302

5.  Pachyonychia congenita (Jadassohn-Lewandowsky syndrome)--evaluation of symptoms in 36 patients.

Authors:  A Kansky; A Basta-Juzbasić; N Videnić; D Ivanković; A Stanimirović
Journal:  Arch Dermatol Res       Date:  1993       Impact factor: 3.017

6.  Overcoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic mice.

Authors:  Pauline Wong; Renee Domergue; Pierre A Coulombe
Journal:  Mol Cell Biol       Date:  2005-01       Impact factor: 4.272

7.  Hedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditions.

Authors:  Li-Hong Gu; Pierre A Coulombe
Journal:  Am J Pathol       Date:  2008-08-07       Impact factor: 4.307

8.  Keratin 17 null mice exhibit age- and strain-dependent alopecia.

Authors:  Kevin M McGowan; Xuemei Tong; Emma Colucci-Guyon; Francina Langa; Charles Babinet; Pierre A Coulombe
Journal:  Genes Dev       Date:  2002-06-01       Impact factor: 11.361

9.  Molecular and comparative genetics of mental retardation.

Authors:  Jennifer K Inlow; Linda L Restifo
Journal:  Genetics       Date:  2004-02       Impact factor: 4.562

10.  A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

Authors:  C S Munro; S Carter; S Bryce; M Hall; J L Rees; L Kunkeler; A Stephenson; T Strachan
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

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