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Hypertrophic osteoarthropathy, primary, autosomal recessive, 2(PHOAR2E)

MedGen UID:
482430
Concept ID:
C3280800
Disease or Syndrome
Synonyms: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2/ENTEROPATHY SYNDROME; PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE; PDP, AUTOSOMAL RECESSIVE; PHOAR2-ENTEROPATHY SYNDROME; PHOAR2E
 
Gene (location): SLCO2A1 (3q22.1-22.2)
 
Monarch Initiative: MONDO:0013756
OMIM®: 614441

Definition

PHOAR2-enteropathy syndrome (PHOAR2E) is characterized by primary hypertrophic osteoarthropathy (PHO) and/or chronic nonspecific ulcers (CNSU) of the small intestine. The cardinal features of PHO are digital clubbing, pachydermia, and periostosis; other manifestations include swelling and pain of the large joints, hyperhidrosis, seborrhea, and acne. CNSU often presents with chronic unexplained anemia and abdominal pain, and patients may exhibit edema due to hypoalbuminemia. Radiologic imaging or endoscopy shows multiple small ulcers, predominantly in the ileum, although the stomach, duodenum, and jejunum are often involved. PHO is more frequent and more severe in male patients, who often also report watery diarrhea, whereas CNSU is more often diagnosed in female patients, who may also show features of PHO such as digital clubbing or arthralgias and swelling of the joints. The same mutations in the SLCO2A1 gene have been reported in patients presenting with either diagnosis, and presumed sex-related modifiers of the manifestations of disease or other genotype/phenotype correlates have yet to be elucidated (Li et al., 2017; Umeno et al., 2018; Hong et al., 2022; Kimball et al., 2024). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100). [from OMIM]

Clinical features

From HPO
Knee pain
MedGen UID:
65421
Concept ID:
C0231749
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Secretory diarrhea
MedGen UID:
75635
Concept ID:
C0267557
Disease or Syndrome
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
Hyperostosis
MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
Excessive growth or abnormal thickening of bone tissue.
Periostosis
MedGen UID:
473416
Concept ID:
C1409412
Disease or Syndrome
Abnormal deposition of periosteal bone.
Seborrheic dermatitis
MedGen UID:
19912
Concept ID:
C0036508
Disease or Syndrome
Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
Acne
MedGen UID:
152379
Concept ID:
C0702166
Disease or Syndrome
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Thickened skin
MedGen UID:
66024
Concept ID:
C0241165
Finding
Laminar thickening of skin.

Professional guidelines

PubMed

Guan Y, Deng H, Dong Q, Wang J
Aesthetic Plast Surg 2024 Jul;48(13):2375-2381. Epub 2024 May 21 doi: 10.1007/s00266-024-04073-3. PMID: 38772942
Lu Q, Xu Y, Zhang Z, Li S, Zhang Z
Front Endocrinol (Lausanne) 2023;14:1235040. Epub 2023 Aug 29 doi: 10.3389/fendo.2023.1235040. PMID: 37705574Free PMC Article

Recent clinical studies

Etiology

Pang Q, Xu Y, Liao R, Li Y, Zhang L, Chi Y, Qi X, Li M, Jiang Y, Wang O, Xing X, Qin L, Xia W
Osteoporos Int 2023 Aug;34(8):1453-1464. Epub 2023 May 18 doi: 10.1007/s00198-023-06784-w. PMID: 37202541Free PMC Article
Hong HS, Baek J, Park JC, Lee HS, Park D, Yoon AR, Park SJ, Hong SN, Koh SJ, Lee CK, Lee BI, Hwang SW, Park SH, Myung SJ, Yang SK, Song K, Ye BD; IBD Research Group of the Korean Association for the Study of Intestinal Diseases
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Ma GM, Chow JS, Taylor GA
Pediatr Radiol 2019 Apr;49(4):534-550. Epub 2019 Mar 16 doi: 10.1007/s00247-019-04371-y. PMID: 30877339
van Manen MJG, Vermeer LC, Moor CC, Vrijenhoeff R, Grutters JC, Veltkamp M, Wijsenbeek MS
Respir Med 2017 Nov;132:226-231. Epub 2017 Nov 2 doi: 10.1016/j.rmed.2017.10.021. PMID: 29229102
Ding J, Li B, Chen T, Hao L, Li D
Aesthetic Plast Surg 2013 Apr;37(2):464-7. Epub 2013 Jan 30 doi: 10.1007/s00266-013-0062-z. PMID: 23361957

Diagnosis

Lu Q, Xu Y, Zhang Z, Li S, Zhang Z
Front Endocrinol (Lausanne) 2023;14:1235040. Epub 2023 Aug 29 doi: 10.3389/fendo.2023.1235040. PMID: 37705574Free PMC Article
Ikeda K, Miyamori D, Hirabayashi R, Ito M
QJM 2022 Sep 22;115(9):611-612. doi: 10.1093/qjmed/hcac147. PMID: 35731213
Doshi D
Orbit 2018 Apr;37(2):97-101. Epub 2017 Oct 17 doi: 10.1080/01676830.2017.1383459. PMID: 29040027
Chen X, Zou CC, Dong GP, Liang L, Zhao ZY
Ir J Med Sci 2012 Jun;181(2):257-61. Epub 2009 May 9 doi: 10.1007/s11845-009-0346-0. PMID: 19430868
de Vernejoul MC
Best Pract Res Clin Rheumatol 2008 Mar;22(1):71-83. doi: 10.1016/j.berh.2007.12.011. PMID: 18328982

Therapy

Zhang H, Yang B
Medicine (Baltimore) 2017 Nov;96(47):e8865. doi: 10.1097/MD.0000000000008865. PMID: 29382005Free PMC Article
Myint TM, Vucak-Dzumhur M, Ebeling PR, Elder GJ
Osteoporos Int 2014 Feb;25(2):769-72. Epub 2013 Jun 26 doi: 10.1007/s00198-013-2425-3. PMID: 23800747
Nguyen S, Hojjati M
Clin Rheumatol 2011 Jan;30(1):7-13. Epub 2010 Oct 9 doi: 10.1007/s10067-010-1563-7. PMID: 20936419
Ihde DC, Minna JD
Curr Probl Cancer 1991 Mar-Apr;15(2):61-104. doi: 10.1016/0147-0272(91)90014-2. PMID: 1649734
Caldwell DS, McCallum RM
Med Clin North Am 1986 Mar;70(2):385-417. doi: 10.1016/s0025-7125(16)30960-9. PMID: 2936936

Prognosis

Akyel NG, Alımlı AG, Demirkan TH, Sivri M
Childs Nerv Syst 2018 Jul;34(7):1407-1410. Epub 2018 Feb 14 doi: 10.1007/s00381-018-3747-4. PMID: 29445918
van Manen MJG, Vermeer LC, Moor CC, Vrijenhoeff R, Grutters JC, Veltkamp M, Wijsenbeek MS
Respir Med 2017 Nov;132:226-231. Epub 2017 Nov 2 doi: 10.1016/j.rmed.2017.10.021. PMID: 29229102
Ding J, Li B, Chen T, Hao L, Li D
Aesthetic Plast Surg 2013 Apr;37(2):464-7. Epub 2013 Jan 30 doi: 10.1007/s00266-013-0062-z. PMID: 23361957
Friedhofer H, Salles AG, Gemperli R, Ferreira MC
Ophthalmic Plast Reconstr Surg 1999 Mar;15(2):137-8. doi: 10.1097/00002341-199903000-00014. PMID: 10189644
Ihde DC, Minna JD
Curr Probl Cancer 1991 Mar-Apr;15(2):61-104. doi: 10.1016/0147-0272(91)90014-2. PMID: 1649734

Clinical prediction guides

Xu Y, Zhang Z, Yue H, Li S, Zhang Z
J Bone Miner Res 2021 Aug;36(8):1459-1468. Epub 2021 May 5 doi: 10.1002/jbmr.4310. PMID: 33852188
Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT
Rheumatology (Oxford) 2010 Jun;49(6):1056-62. Epub 2010 Mar 18 doi: 10.1093/rheumatology/keq048. PMID: 20299379
Arikan S, Sen I, Bahceci M, Tuzcu A, Ayli M
Int J Dermatol 2009 Aug;48(8):882-5. doi: 10.1111/j.1365-4632.2008.03774.x. PMID: 19659869
Boisseau-Garsaud AM, Beylot-Barry M, Doutre MS, Beylot C, Baran R
Arch Dermatol 1996 Feb;132(2):176-80. PMID: 8629826
Matucci-Cerinic M, Lotti T, Calvieri S, Ghersetich I, Sacerdoti L, Teofoli P, Jajic I, Cagnoni M
Clin Exp Rheumatol 1992 May-Jun;10 Suppl 7:45-8. PMID: 1623673

Recent systematic reviews

Wang Q, Li YH, Lin GL, Li Y, Zhou WX, Qian JM, Xia WB, Wu D
Orphanet J Rare Dis 2019 Dec 26;14(1):297. doi: 10.1186/s13023-019-1264-5. PMID: 31878983Free PMC Article

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