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Hypertrophic osteoarthropathy, primary, autosomal dominant(PHOAD)

MedGen UID:
382429
Concept ID:
C2674695
Disease or Syndrome
Synonyms: PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT; PDP, AUTOSOMAL DOMINANT; PHO, AUTOSOMAL DOMINANT; PHOAD
 
Gene (location): SLCO2A1 (3q22.1-22.2)
 
Monarch Initiative: MONDO:0008172
OMIM®: 167100

Definition

Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021). Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes. Genetic Heterogeneity Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene. Patients with autosomal recessive PHO do not experience gastrointestinal symptoms. [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.
Elevated urinary prostaglandin E2 level
MedGen UID:
411843
Concept ID:
C2749457
Finding
An increased amount of prostaglandin E2 in the urine.
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
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.
Periosteal thickening of long tubular bones
MedGen UID:
322394
Concept ID:
C1834345
Finding
Thickening of the periosteum of long 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).
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.
Cutis gyrata of scalp
MedGen UID:
78095
Concept ID:
C0263417
Disease or Syndrome
The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

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
Limenis E, Stimec J, Kannu P, Laxer RM
Pediatr Rheumatol Online J 2021 Jul 14;19(1):113. doi: 10.1186/s12969-021-00596-0. PMID: 34261502Free PMC Article
Nahar I, Al-Shemmeri M, Hussain M
Gulf J Oncolog 2007 Jan;1(1):71-6. PMID: 20084716

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
Munichandrappa P, Singh N, Thappa DM
Indian J Dermatol Venereol Leprol 2016 Jan-Feb;82(1):57-8. doi: 10.4103/0378-6323.172901. PMID: 26728812
Ali N
JAAPA 2015 Jun;28(6):65-6. doi: 10.1097/01.JAA.0000462058.86000.b6. PMID: 25989437
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

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
Biswas S, Narang H, Rajput MS, Makharia G
BMJ Case Rep 2022 May 17;15(5) doi: 10.1136/bcr-2021-247193. PMID: 35580956Free PMC Article
Yadav N, Yanamandra U
N Engl J Med 2022 Mar 3;386(9):e22. doi: 10.1056/NEJMicm2113457. PMID: 35235729
Martínez-Lavín M
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101507. Epub 2020 Apr 11 doi: 10.1016/j.berh.2020.101507. PMID: 32291203
Doshi D
Orbit 2018 Apr;37(2):97-101. Epub 2017 Oct 17 doi: 10.1080/01676830.2017.1383459. PMID: 29040027

Therapy

Biswas S, Narang H, Rajput MS, Makharia G
BMJ Case Rep 2022 May 17;15(5) doi: 10.1136/bcr-2021-247193. PMID: 35580956Free PMC Article
Prasad A, Shahi P, Sehgal A, Bhagirathi Mallikarjunaswamy M
BMJ Case Rep 2020 May 13;13(5) doi: 10.1136/bcr-2020-236034. PMID: 32404375Free PMC Article
Zhang Z, Zhang C, Zhang Z
Front Med 2013 Mar;7(1):60-4. Epub 2013 Jan 23 doi: 10.1007/s11684-013-0246-6. PMID: 23345113
Gupta M, Lehl SS, Singh R, Sachdev A
BMJ Case Rep 2011 Sep 28;2011 doi: 10.1136/bcr.08.2011.4605. PMID: 22679327Free PMC Article
Martinez-Lavin M, Vargas A, Rivera-Viñas M
Curr Opin Rheumatol 2008 Jan;20(1):88-91. doi: 10.1097/BOR.0b013e3282f14a5a. PMID: 18281863

Prognosis

Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
Callemeyn J, Van Haecke P, Peetermans WE, Blockmans D
Acta Clin Belg 2016 Jun;71(3):123-30. Epub 2016 Apr 22 doi: 10.1080/17843286.2016.1152672. PMID: 27104368
Munichandrappa P, Singh N, Thappa DM
Indian J Dermatol Venereol Leprol 2016 Jan-Feb;82(1):57-8. doi: 10.4103/0378-6323.172901. PMID: 26728812
Martinez-Lavin M
Best Pract Res Clin Rheumatol 2011 Oct;25(5):727-34. doi: 10.1016/j.berh.2011.10.019. PMID: 22142750
Fam AG
Baillieres Best Pract Res Clin Rheumatol 2000 Sep;14(3):515-33. doi: 10.1053/berh.2000.0091. PMID: 10985984

Clinical prediction guides

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
Gut Liver 2022 Nov 15;16(6):942-951. Epub 2022 May 25 doi: 10.5009/gnl210415. PMID: 35611666Free PMC Article
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
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
Stone OJ
Dermatol Clin 1985 Jul;3(3):485-90. PMID: 3830509

Recent systematic reviews

Marangu D, Gray D, Vanker A, Zampoli M
Paediatr Respir Rev 2020 Feb;33:45-51. Epub 2019 Jan 20 doi: 10.1016/j.prrv.2019.01.001. PMID: 30962152Free PMC Article
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
Shakya P, Pokhrel KN, Mlunde LB, Tan S, Ota E, Niizeki H
J Dermatol Sci 2018 Apr;90(1):21-26. Epub 2017 Dec 28 doi: 10.1016/j.jdermsci.2017.12.012. PMID: 29305259

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