U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypertrophic osteoarthropathy, primary, autosomal recessive, 2(PHOAR2)

MedGen UID:
482430
Concept ID:
C3280800
Disease or Syndrome
Synonyms: PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE; PDP, AUTOSOMAL RECESSIVE
 
Gene (location): SLCO2A1 (3q22.1-22.2)
 
Monarch Initiative: MONDO:0013756
OMIM®: 614441

Definition

Autosomal recessive primary hypertrophic osteoarthropathy-2 (PHOAR2) is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Pain and swelling of ankles and knees, watery diarrhea, and excessive sweating are often present. Males are more frequently and severely affected (summary by Zhang et al., 2013, Li et al., 2017). 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

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
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
Hou Y, Lin Y, Qi X, Yuan L, Liao R, Pang Q, Cui L, Jiang Y, Wang O, Li M, Dong J, Xia W
Bone 2018 Jan;106:96-102. Epub 2017 Sep 28 doi: 10.1016/j.bone.2017.09.015. PMID: 28963081
Jajic Z, Jajic I, Nemcic T
Arch Med Res 2001 Mar-Apr;32(2):136-42. doi: 10.1016/s0188-4409(01)00251-x. PMID: 11343811
Silveira LH, Martínez-Lavín M, Pineda C, Fonseca MC, Navarro C, Nava A
Clin Exp Rheumatol 2000 Jan-Feb;18(1):57-62. PMID: 10728444

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
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
Doshi D
Orbit 2018 Apr;37(2):97-101. Epub 2017 Oct 17 doi: 10.1080/01676830.2017.1383459. PMID: 29040027
Hansen-Flaschen J, Nordberg J
Clin Chest Med 1987 Jun;8(2):287-98. PMID: 3304817

Therapy

Joshi A, Nepal G, Shing YK, Panthi HP, Baral S
J Med Case Rep 2019 Feb 21;13(1):39. doi: 10.1186/s13256-018-1961-z. PMID: 30786934Free PMC Article
Li SS, He JW, Fu WZ, Liu YJ, Hu YQ, Zhang ZL
J Bone Miner Res 2017 Aug;32(8):1659-1666. Epub 2017 Jun 2 doi: 10.1002/jbmr.3157. PMID: 28425581
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

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
Cheng R, Li M, Guo Y, Yao Y, Gao C, Yao Z
Eur J Dermatol 2013 Sep-Oct;23(5):636-9. doi: 10.1684/ejd.2013.2154. PMID: 24153155
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
Ahrenstorf G, Rihl M, Pichlmaier MA, Rosenthal H, Witte T, Schmidt RE
J Clin Rheumatol 2012 Sep;18(6):307-9. PMID: 23120763
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
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
Li SS, He JW, Fu WZ, Liu YJ, Hu YQ, Zhang ZL
J Bone Miner Res 2017 Aug;32(8):1659-1666. Epub 2017 Jun 2 doi: 10.1002/jbmr.3157. PMID: 28425581
Sinibaldi L, Harifi G, Bottillo I, Iannicelli M, El Hassani S, Brancati F, Dallapiccola B
Clin Exp Rheumatol 2010 Mar-Apr;28(2):153-7. Epub 2010 May 13 PMID: 20406614
Santiago MB, Lima I, Feitosa AC, Braz Ade S, Miranda LG
Semin Arthritis Rheum 2009 Jun;38(6):452-7. Epub 2008 Apr 18 doi: 10.1016/j.semarthrit.2008.01.018. PMID: 18378280

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...