Entry - #149100 - KNUCKLE PADS - OMIM - (MIRROR)

 
ICD+
# 149100

KNUCKLE PADS


Clinical Synopsis
 

Limbs
- Knuckle pads
- Subcutaneous nodules on the dorsum of proximal interphalangeal joints
Inheritance
- Autosomal dominant
▲ Close

▼ TEXT

A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytic palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant.

▼ Description

Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'

▼ Clinical Features

Knuckle pads are sometimes associated with Dupuytren contractures and it is not completely certain that a different gene is involved. Camptodactyly (114200) also has an uncertain relationship.

Lu et al. (2003) reported association of knuckle pads with epidermolytic palmoplantar keratoderma in a Chinese family.


▼ Molecular Genetics

In a Chinese family with association of knuckle pads with epidermolytic palmoplantar keratoderma, Lu et al. (2003) identified heterozygosity for a novel leu160-to-phe mutation in the keratin-9 gene (L160F; 607606.0012) as the presumed cause. They presented evidence that both the hyperkeratosis and the knuckle pads were friction-related.


▼ REFERENCES

  1. Allison, J. R., Jr., Allison, J. R., Sr. Knuckle pads. Arch. Derm. 93: 311-316, 1966. [PubMed: 5910872, related citations]

  2. Garrod, A. E. Concerning pads upon the finger joints and their clinical relationship. Brit. Med. J. 2: 8 only, 1904. [PubMed: 20761632, related citations] [Full Text]

  3. Lu, Y., Guo, C., Liu, Q., Zhang, X., Cheng, L., Li, J., Chen, B., Gao, G., Zhou, H., Guo, Y., Li, Y., Gong, Y. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am. J. Med. Genet. 120A: 345-349, 2003. [PubMed: 12838553, related citations] [Full Text]

  4. Skoog, T. Dupuytren's contraction with special references to aetiology and improved surgical treatment: its occurrence in epileptics: note on knuckle-pads. Acta Chir. Scand. 96 (suppl. 139): 1-190, 1948. Note: P. 173.

  5. Weber, F. P. A note on Dupuytren's contraction, camptodactylia and knuckle-pads. Brit. J. Derm. Syph. 50: 26-31, 1938.

  6. White, W. H. On pads on the finger joints. Quart. J. Med. 1: 479-480, 1908.


Contributors:
Victor A. McKusick - updated : 8/5/2003
Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
alopez : 04/06/2020
carol : 06/24/2004
tkritzer : 8/6/2003
tkritzer : 8/5/2003
mimadm : 11/5/1994
davew : 7/13/1994
warfield : 4/21/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989

# 149100

KNUCKLE PADS


SNOMEDCT: 16687001;   ICD10CM: M72.1;  



TEXT

A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytic palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant.

Description

Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'

Clinical Features

Knuckle pads are sometimes associated with Dupuytren contractures and it is not completely certain that a different gene is involved. Camptodactyly (114200) also has an uncertain relationship.

Lu et al. (2003) reported association of knuckle pads with epidermolytic palmoplantar keratoderma in a Chinese family.


Molecular Genetics

In a Chinese family with association of knuckle pads with epidermolytic palmoplantar keratoderma, Lu et al. (2003) identified heterozygosity for a novel leu160-to-phe mutation in the keratin-9 gene (L160F; 607606.0012) as the presumed cause. They presented evidence that both the hyperkeratosis and the knuckle pads were friction-related.


See Also:

Allison and Allison (1966); Garrod (1904); Weber (1938); White (1908)

REFERENCES

  1. Allison, J. R., Jr., Allison, J. R., Sr. Knuckle pads. Arch. Derm. 93: 311-316, 1966. [PubMed: 5910872]

  2. Garrod, A. E. Concerning pads upon the finger joints and their clinical relationship. Brit. Med. J. 2: 8 only, 1904. [PubMed: 20761632] [Full Text: https://doi.org/10.1136/bmj.2.2270.8]

  3. Lu, Y., Guo, C., Liu, Q., Zhang, X., Cheng, L., Li, J., Chen, B., Gao, G., Zhou, H., Guo, Y., Li, Y., Gong, Y. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am. J. Med. Genet. 120A: 345-349, 2003. [PubMed: 12838553] [Full Text: https://doi.org/10.1002/ajmg.a.20090]

  4. Skoog, T. Dupuytren's contraction with special references to aetiology and improved surgical treatment: its occurrence in epileptics: note on knuckle-pads. Acta Chir. Scand. 96 (suppl. 139): 1-190, 1948. Note: P. 173.

  5. Weber, F. P. A note on Dupuytren's contraction, camptodactylia and knuckle-pads. Brit. J. Derm. Syph. 50: 26-31, 1938.

  6. White, W. H. On pads on the finger joints. Quart. J. Med. 1: 479-480, 1908.


Contributors:
Victor A. McKusick - updated : 8/5/2003

Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
alopez : 04/06/2020
carol : 06/24/2004
tkritzer : 8/6/2003
tkritzer : 8/5/2003
mimadm : 11/5/1994
davew : 7/13/1994
warfield : 4/21/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 30, 2024