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Olmsted syndrome 1(OLMS1; PPKM1)

MedGen UID:
1778121
Concept ID:
C5542829
Disease or Syndrome
Synonyms: OLMS1; OLMSTED SYNDROME 1; PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES 1; PPKM1
 
Gene (location): TRPV3 (17p13.2)
 
Monarch Initiative: MONDO:0100296
OMIM®: 614594

Definition

Olmsted syndrome-1 (OLMS1) is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). Genetic Heterogeneity of Olmsted Syndrome Olmsted syndrome-2 (OLMS2; 619208) is caused by mutation in the PERP gene (609301) on chromosome 6q23. An X-linked form of Olmsted syndrome (OLMSX; 300918) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22. [from OMIM]

Clinical features

From HPO
Autoamputation of digits
MedGen UID:
343770
Concept ID:
C1852289
Finding
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Subungual hyperkeratosis
MedGen UID:
21379
Concept ID:
C0038605
Finding
A thickening of the stratum corneum in the region beneath the nails.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Alopecia universalis
MedGen UID:
120481
Concept ID:
C0263505
Disease or Syndrome
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.
Hyperparakeratosis
MedGen UID:
473366
Concept ID:
C1265968
Finding
Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Periorificial hyperkeratosis
MedGen UID:
1841721
Concept ID:
C5826447
Disease or Syndrome
Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.
Amniotic constriction ring
MedGen UID:
315953
Concept ID:
C1527388
Congenital Abnormality
Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Professional guidelines

PubMed

Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, Jordan L, Lanzkron SM, Lottenberg R, Savage WJ, Tanabe PJ, Ware RE, Murad MH, Goldsmith JC, Ortiz E, Fulwood R, Horton A, John-Sowah J
JAMA 2014 Sep 10;312(10):1033-48. doi: 10.1001/jama.2014.10517. PMID: 25203083
De Souza MJ, Nattiv A, Joy E, Misra M, Williams NI, Mallinson RJ, Gibbs JC, Olmsted M, Goolsby M, Matheson G; Expert Panel
Br J Sports Med 2014 Feb;48(4):289. doi: 10.1136/bjsports-2013-093218. PMID: 24463911
Gertz MA, Lacy MQ, Dispenzieri A, Hayman SR
Clin Lymphoma Myeloma 2005 Nov;6(3):208-19. doi: 10.3816/CLM.2005.n.048. PMID: 16354326

Recent clinical studies

Etiology

Devine MF, Feemster JC, Lieske EA, McCarter SJ, Sandness DJ, Steele T, Timm PC, Mandrekar J, Boeve BF, Silber MH, Dubey D, McKeon A, St Louis EK
Sleep 2022 Feb 14;45(2) doi: 10.1093/sleep/zsab297. PMID: 34953167Free PMC Article
Zand Irani M, Jones MP, Halland M, Herrick L, Choung RS, Saito Loftus YA, Walker MM, Murray JA, Talley NJ
Aliment Pharmacol Ther 2021 Dec;54(11-12):1416-1431. Epub 2021 Oct 9 doi: 10.1111/apt.16630. PMID: 34626489Free PMC Article
El Sahly HM, Baden LR, Essink B, Doblecki-Lewis S, Martin JM, Anderson EJ, Campbell TB, Clark J, Jackson LA, Fichtenbaum CJ, Zervos M, Rankin B, Eder F, Feldman G, Kennelly C, Han-Conrad L, Levin M, Neuzil KM, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Polakowski L, Mascola JR, Ledgerwood JE, Graham BS, August A, Clouting H, Deng W, Han S, Leav B, Manzo D, Pajon R, Schödel F, Tomassini JE, Zhou H, Miller J; COVE Study Group
N Engl J Med 2021 Nov 4;385(19):1774-1785. Epub 2021 Sep 22 doi: 10.1056/NEJMoa2113017. PMID: 34551225Free PMC Article
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
De Souza MJ, Nattiv A, Joy E, Misra M, Williams NI, Mallinson RJ, Gibbs JC, Olmsted M, Goolsby M, Matheson G; Expert Panel
Br J Sports Med 2014 Feb;48(4):289. doi: 10.1136/bjsports-2013-093218. PMID: 24463911

Diagnosis

Johnson SA, Shouman K, Shelly S, Sandroni P, Berini SE, Dyck PJB, Hoffman EM, Mandrekar J, Niu Z, Lamb CJ, Low PA, Singer W, Mauermann ML, Mills J, Dubey D, Staff NP, Klein CJ
Neurology 2021 Nov 30;97(22):e2236-e2247. Epub 2021 Oct 27 doi: 10.1212/WNL.0000000000012894. PMID: 34706972Free PMC Article
Devine MF, St Louis EK
Neurotherapeutics 2021 Jan;18(1):181-201. Epub 2021 Mar 30 doi: 10.1007/s13311-021-01020-x. PMID: 33786802Free PMC Article
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
De Souza MJ, Nattiv A, Joy E, Misra M, Williams NI, Mallinson RJ, Gibbs JC, Olmsted M, Goolsby M, Matheson G; Expert Panel
Br J Sports Med 2014 Feb;48(4):289. doi: 10.1136/bjsports-2013-093218. PMID: 24463911
Gertz MA, Lacy MQ, Dispenzieri A, Hayman SR
Clin Lymphoma Myeloma 2005 Nov;6(3):208-19. doi: 10.3816/CLM.2005.n.048. PMID: 16354326

Therapy

El Sahly HM, Baden LR, Essink B, Doblecki-Lewis S, Martin JM, Anderson EJ, Campbell TB, Clark J, Jackson LA, Fichtenbaum CJ, Zervos M, Rankin B, Eder F, Feldman G, Kennelly C, Han-Conrad L, Levin M, Neuzil KM, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Polakowski L, Mascola JR, Ledgerwood JE, Graham BS, August A, Clouting H, Deng W, Han S, Leav B, Manzo D, Pajon R, Schödel F, Tomassini JE, Zhou H, Miller J; COVE Study Group
N Engl J Med 2021 Nov 4;385(19):1774-1785. Epub 2021 Sep 22 doi: 10.1056/NEJMoa2113017. PMID: 34551225Free PMC Article
Bao J, Khazen O, Olmsted ZT, Gechtman G, Shao MM, DiMarzio M, Topp G, Sukul VV, Staudt MD, Pilitsis JG
Pain Med 2021 Jun 4;22(6):1305-1311. doi: 10.1093/pm/pnab007. PMID: 33502508Free PMC Article
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, Jordan L, Lanzkron SM, Lottenberg R, Savage WJ, Tanabe PJ, Ware RE, Murad MH, Goldsmith JC, Ortiz E, Fulwood R, Horton A, John-Sowah J
JAMA 2014 Sep 10;312(10):1033-48. doi: 10.1001/jama.2014.10517. PMID: 25203083
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790

Prognosis

Shah S, Flanagan EP, Paul P, Smith CY, Bryant SC, Devine MF, Lennon VA, McKeon A, Pittock SJ, Dubey D
Neurol Neuroimmunol Neuroinflamm 2022 Mar;9(2) Epub 2021 Dec 22 doi: 10.1212/NXI.0000000000001124. PMID: 34937736Free PMC Article
Johnson SA, Shouman K, Shelly S, Sandroni P, Berini SE, Dyck PJB, Hoffman EM, Mandrekar J, Niu Z, Lamb CJ, Low PA, Singer W, Mauermann ML, Mills J, Dubey D, Staff NP, Klein CJ
Neurology 2021 Nov 30;97(22):e2236-e2247. Epub 2021 Oct 27 doi: 10.1212/WNL.0000000000012894. PMID: 34706972Free PMC Article
Zand Irani M, Jones MP, Halland M, Herrick L, Choung RS, Saito Loftus YA, Walker MM, Murray JA, Talley NJ
Aliment Pharmacol Ther 2021 Dec;54(11-12):1416-1431. Epub 2021 Oct 9 doi: 10.1111/apt.16630. PMID: 34626489Free PMC Article
El Sahly HM, Baden LR, Essink B, Doblecki-Lewis S, Martin JM, Anderson EJ, Campbell TB, Clark J, Jackson LA, Fichtenbaum CJ, Zervos M, Rankin B, Eder F, Feldman G, Kennelly C, Han-Conrad L, Levin M, Neuzil KM, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Polakowski L, Mascola JR, Ledgerwood JE, Graham BS, August A, Clouting H, Deng W, Han S, Leav B, Manzo D, Pajon R, Schödel F, Tomassini JE, Zhou H, Miller J; COVE Study Group
N Engl J Med 2021 Nov 4;385(19):1774-1785. Epub 2021 Sep 22 doi: 10.1056/NEJMoa2113017. PMID: 34551225Free PMC Article
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article

Clinical prediction guides

Johnson SA, Shouman K, Shelly S, Sandroni P, Berini SE, Dyck PJB, Hoffman EM, Mandrekar J, Niu Z, Lamb CJ, Low PA, Singer W, Mauermann ML, Mills J, Dubey D, Staff NP, Klein CJ
Neurology 2021 Nov 30;97(22):e2236-e2247. Epub 2021 Oct 27 doi: 10.1212/WNL.0000000000012894. PMID: 34706972Free PMC Article
El Sahly HM, Baden LR, Essink B, Doblecki-Lewis S, Martin JM, Anderson EJ, Campbell TB, Clark J, Jackson LA, Fichtenbaum CJ, Zervos M, Rankin B, Eder F, Feldman G, Kennelly C, Han-Conrad L, Levin M, Neuzil KM, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Polakowski L, Mascola JR, Ledgerwood JE, Graham BS, August A, Clouting H, Deng W, Han S, Leav B, Manzo D, Pajon R, Schödel F, Tomassini JE, Zhou H, Miller J; COVE Study Group
N Engl J Med 2021 Nov 4;385(19):1774-1785. Epub 2021 Sep 22 doi: 10.1056/NEJMoa2113017. PMID: 34551225Free PMC Article
Baden LR, El Sahly HM, Essink B, Kotloff K, Frey S, Novak R, Diemert D, Spector SA, Rouphael N, Creech CB, McGettigan J, Khetan S, Segall N, Solis J, Brosz A, Fierro C, Schwartz H, Neuzil K, Corey L, Gilbert P, Janes H, Follmann D, Marovich M, Mascola J, Polakowski L, Ledgerwood J, Graham BS, Bennett H, Pajon R, Knightly C, Leav B, Deng W, Zhou H, Han S, Ivarsson M, Miller J, Zaks T; COVE Study Group
N Engl J Med 2021 Feb 4;384(5):403-416. Epub 2020 Dec 30 doi: 10.1056/NEJMoa2035389. PMID: 33378609Free PMC Article
Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, Jordan L, Lanzkron SM, Lottenberg R, Savage WJ, Tanabe PJ, Ware RE, Murad MH, Goldsmith JC, Ortiz E, Fulwood R, Horton A, John-Sowah J
JAMA 2014 Sep 10;312(10):1033-48. doi: 10.1001/jama.2014.10517. PMID: 25203083
De Souza MJ, Nattiv A, Joy E, Misra M, Williams NI, Mallinson RJ, Gibbs JC, Olmsted M, Goolsby M, Matheson G; Expert Panel
Br J Sports Med 2014 Feb;48(4):289. doi: 10.1136/bjsports-2013-093218. PMID: 24463911

Recent systematic reviews

Weinstein TL, Li X
AIDS Care 2016;28(2):160-9. Epub 2015 Nov 13 doi: 10.1080/09540121.2015.1090532. PMID: 26565754

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