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Clubbing of fingers

MedGen UID:
3129
Concept ID:
C0009080
Anatomical Abnormality; Finding
Synonyms: Clubbed fingers; Clubbing (hands); Finger clubbing
SNOMED CT: FC - Finger clubbing (30760008); Clubbed fingers (30760008); Drumstick fingers (30760008); Finger clubbing (30760008)
 
HPO: HP:0100759

Definition

An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. [from NCI]

Term Hierarchy

Conditions with this feature

Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Arteriovenous fistula of pulmonary vessels
MedGen UID:
102338
Concept ID:
C0155675
Disease or Syndrome
A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs.
Metaphyseal chondrodysplasia, Jansen type
MedGen UID:
120529
Concept ID:
C0265295
Congenital Abnormality
The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).
Cronkhite-Canada syndrome
MedGen UID:
129128
Concept ID:
C0282207
Disease or Syndrome
Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).
Hereditary sclerosing poikiloderma
MedGen UID:
91006
Concept ID:
C0343094
Congenital Abnormality
Idiopathic fibrosing alveolitis, chronic form
MedGen UID:
321462
Concept ID:
C1800706
Disease or Syndrome
Familial pulmonary fibrosis (FPF in this GeneReview) is defined as idiopathic interstitial pneumonia (IIP) in two or more first-degree relatives (parent, sib, or offspring). Up to 20% of cases of IIP cluster in families. The clinical findings of IIP are bibasilar reticular abnormalities, ground glass opacities, or diffuse nodular lesions on high-resolution computed tomography and abnormal pulmonary function studies that include evidence of restriction (reduced VC with an increase in FEV1/FVC ratio) and/or impaired gas exchange (increased P(A-a)O2 with rest or exercise or decreased diffusion capacity of the lung for carbon monoxide [DLCO]). FPF usually presents between ages 50 and 70 years. FPF may be complicated by lung cancer; bronchoalveolar cell carcinoma, small-cell carcinoma, and adenocarcinoma have been described.
Nakajo syndrome
MedGen UID:
376827
Concept ID:
C1850568
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
Mucus inspissation of respiratory tract
MedGen UID:
340702
Concept ID:
C1854729
Disease or Syndrome
Ketoadipicaciduria
MedGen UID:
340920
Concept ID:
C1855626
Disease or Syndrome
Pulmonary nodular lymphoid hyperplasia, familial
MedGen UID:
401226
Concept ID:
C1867419
Disease or Syndrome
Chronic familial neutropenia
MedGen UID:
384521
Concept ID:
C2267231
Disease or Syndrome
Hypertrophic osteoarthropathy, primary, autosomal dominant
MedGen UID:
382429
Concept ID:
C2674695
Disease or Syndrome
Common variable immunodeficiency 8, with autoimmunity
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).

Recent clinical studies

Etiology

Acharyya S, Acharyya K
BMJ Case Rep 2013 Aug 30;2013 doi: 10.1136/bcr-2013-200288. PMID: 23997082Free PMC Article
Luo GH, Ma WG, Huang LJ, Yan J, Zhu XD
J Card Surg 2011 Mar;26(2):130-4. Epub 2011 Feb 8 doi: 10.1111/j.1540-8191.2010.01204.x. PMID: 21303412
Sirithangkul S, Chuengchitraks S, Staworn D, Laohapand C, Silarat T
J Med Assoc Thai 2010 Nov;93 Suppl 6:S223-7. PMID: 21280540
Salem A, Gamil H, Hamed M, Galal S
J Eur Acad Dermatol Venereol 2010 Jun;24(6):649-54. Epub 2009 Nov 2 doi: 10.1111/j.1468-3083.2009.03476.x. PMID: 19888943
GELFAND M
Cent Afr J Med 1962 Jun;8:231-2. PMID: 13897592

Diagnosis

Sun ZG, Wang Z, Zhang M
Chest 2011 Jun;139(6):1528-1531. doi: 10.1378/chest.10-2463. PMID: 21652564
Luo GH, Ma WG, Huang LJ, Yan J, Zhu XD
J Card Surg 2011 Mar;26(2):130-4. Epub 2011 Feb 8 doi: 10.1111/j.1540-8191.2010.01204.x. PMID: 21303412
Sirithangkul S, Chuengchitraks S, Staworn D, Laohapand C, Silarat T
J Med Assoc Thai 2010 Nov;93 Suppl 6:S223-7. PMID: 21280540
Salem A, Gamil H, Hamed M, Galal S
J Eur Acad Dermatol Venereol 2010 Jun;24(6):649-54. Epub 2009 Nov 2 doi: 10.1111/j.1468-3083.2009.03476.x. PMID: 19888943
Martínez-Ferrer A, Peris P, Alós L, Morales-Ruiz M, Guañabens N
Clin Rheumatol 2009 Oct;28(10):1229-33. Epub 2009 May 21 doi: 10.1007/s10067-009-1197-9. PMID: 19455364

Therapy

Alam MT, Sheikh SS, Aziz S, Masroor M
J Ayub Med Coll Abbottabad 2008 Oct-Dec;20(4):165-6. PMID: 19999234
Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM
Scand J Rheumatol Suppl 1987;66:57-68. PMID: 3482735

Prognosis

Sirithangkul S, Chuengchitraks S, Staworn D, Laohapand C, Silarat T
J Med Assoc Thai 2010 Nov;93 Suppl 6:S223-7. PMID: 21280540
Alam MT, Sheikh SS, Aziz S, Masroor M
J Ayub Med Coll Abbottabad 2008 Oct-Dec;20(4):165-6. PMID: 19999234
Abrahams NA, Colby TV, Pearl RH, Chipps BE, Juris AL, Leslie KO
Pediatr Dev Pathol 2002 May-Jun;5(3):283-92. doi: 10.1007/s10024001-0151-x. PMID: 12007021
Vangveeravong M, Schidlow DV
J Med Assoc Thai 1995 Mar;78(3):145-56. PMID: 7643031
Küçükaydín M, Patíroğlu TE, Okur H, Içer M
Eur J Pediatr Surg 1992 Oct;2(5):295-7. PMID: 1329940

Clinical prediction guides

Salem A, Gamil H, Hamed M, Galal S
J Eur Acad Dermatol Venereol 2010 Jun;24(6):649-54. Epub 2009 Nov 2 doi: 10.1111/j.1468-3083.2009.03476.x. PMID: 19888943
Mohindra S, Yachha SK, Srivastava A, Krishnani N, Aggarwal R, Ghoshal UC, Prasad KK, Naik SR
J Health Popul Nutr 2001 Sep;19(3):204-8. PMID: 11761775
Nigam P, Kapoor KK, Sarkari NB, Jain RK, Gupta AK, Sharma SP, Mishra SD
J Assoc Physicians India 1993 Mar;41(3):138-41. PMID: 8226594
Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM
Scand J Rheumatol Suppl 1987;66:57-68. PMID: 3482735

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