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Osteosclerosis-ichthyosis-premature ovarian failure syndrome

MedGen UID:
355875
Concept ID:
C1864942
Disease or Syndrome
Synonyms: Osteosclerosis with ichthyosis and POF; Osteosclerosis with ichthyosis and premature ovarian failure; Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0012387
OMIM®: 609993
Orphanet: ORPHA75325

Definition

A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. [from ORDO]

Clinical features

From HPO
Lower limb pain
MedGen UID:
6033
Concept ID:
C0023222
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
Premature ovarian insufficiency
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Hypoplasia of the ovary
MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
Developmental hypoplasia of the ovary.
Subperiosteal bone formation
MedGen UID:
393241
Concept ID:
C2674853
Finding
The formation of new bone along the cortex and underneath the periosteum of a bone.
Osteosclerosis of the base of the skull
MedGen UID:
867264
Concept ID:
C4021624
Finding
An increase in bone density affecting the basicranium (base of the skull).
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteosclerosis-ichthyosis-premature ovarian failure syndrome
Follow this link to review classifications for Osteosclerosis-ichthyosis-premature ovarian failure syndrome in Orphanet.

Professional guidelines

PubMed

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Klein DA, Poth MA
Am Fam Physician 2013 Jun 1;87(11):781-8. PMID: 23939500

Recent clinical studies

Etiology

Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Szeliga A, Calik-Ksepka A, Maciejewska-Jeske M, Grymowicz M, Smolarczyk K, Kostrzak A, Smolarczyk R, Rudnicka E, Meczekalski B
Int J Mol Sci 2021 Mar 5;22(5) doi: 10.3390/ijms22052594. PMID: 33807517Free PMC Article
Okoth K, Chandan JS, Marshall T, Thangaratinam S, Thomas GN, Nirantharakumar K, Adderley NJ
BMJ 2020 Oct 7;371:m3502. doi: 10.1136/bmj.m3502. PMID: 33028606Free PMC Article
Parizot E, Dard R, Janel N, Vialard F
J Assist Reprod Genet 2019 Jun;36(6):1063-1067. Epub 2019 May 9 doi: 10.1007/s10815-019-01457-2. PMID: 31073724Free PMC Article
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

Diagnosis

Murali N, El Hayek SM
Emerg Med Clin North Am 2021 Nov;39(4):839-850. Epub 2021 Sep 10 doi: 10.1016/j.emc.2021.07.003. PMID: 34600641Free PMC Article
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

Therapy

Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Pedersen BK, Saltin B
Scand J Med Sci Sports 2015 Dec;25 Suppl 3:1-72. doi: 10.1111/sms.12581. PMID: 26606383

Prognosis

Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
di Clemente N, Racine C, Pierre A, Taieb J
Endocr Rev 2021 Nov 16;42(6):753-782. doi: 10.1210/endrev/bnab012. PMID: 33851994
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
di Clemente N, Racine C, Pierre A, Taieb J
Endocr Rev 2021 Nov 16;42(6):753-782. doi: 10.1210/endrev/bnab012. PMID: 33851994
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633

Recent systematic reviews

Lim CED, Ng RWC, Cheng NCL, Zhang GS, Chen H
Cochrane Database Syst Rev 2019 Jul 2;7(7):CD007689. doi: 10.1002/14651858.CD007689.pub4. PMID: 31264709Free PMC Article
Farquhar C, Marjoribanks J
Cochrane Database Syst Rev 2018 Aug 17;8(8):CD010537. doi: 10.1002/14651858.CD010537.pub5. PMID: 30117155Free PMC Article
Lim CE, Ng RW, Xu K, Cheng NC, Xue CC, Liu JP, Chen N
Cochrane Database Syst Rev 2016 May 3;(5):CD007689. doi: 10.1002/14651858.CD007689.pub3. PMID: 27136291
Fernandez H, Morin-Surruca M, Torre A, Faivre E, Deffieux X, Gervaise A
Reprod Biomed Online 2011 Jun;22(6):556-68. Epub 2011 Mar 21 doi: 10.1016/j.rbmo.2011.03.013. PMID: 21511534
Bhattacharya S, Johnson N, Tijani HA, Hart R, Pandey S, Gibreel AF
BMJ Clin Evid 2010 Nov 11;2010 PMID: 21406133Free PMC Article

Supplemental Content

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