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Respiratory papillomatosis, juvenile recurrent, congenital(JRRP)

MedGen UID:
1719353
Concept ID:
C5394112
Disease or Syndrome
Synonyms: JRRP; RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL
 
Gene (location): NLRP1 (17p13.2)
 
Monarch Initiative: MONDO:0032925
OMIM®: 618803

Definition

Congenital juvenile respiratory papillomatosis (JRRP) is an autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction. Affected individuals may also have mild dermatologic abnormalities similar to those observed in AIADK. While JRRP is a genetic disorder resulting from abnormal activation of the immune system, RRP in general is usually associated with acquired HPV infection, commonly with HPV types 6 and 11 (summary by Drutman et al., 2019). [from OMIM]

Clinical features

From HPO
Laryngeal papillomatosis
MedGen UID:
96006
Concept ID:
C0396072
Neoplastic Process
A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Atrophoderma vermiculatum
MedGen UID:
82666
Concept ID:
C0263429
Disease or Syndrome
Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.

Recent clinical studies

Etiology

Teutsch SM, Nunez CA, Morris A, Eslick GD, Elliott EJ
Commun Dis Intell (2018) 2023 Aug 24;47 doi: 10.33321/cdi.2023.47.46. PMID: 37817313
Teutsch SM, Nunez CA, Morris A, Eslick GD, Berkhout A, Novakovic D, Brotherton JM, McGregor S, Khawar L, Khandaker G, Booy R, Jones CA, Rawlinson W, Thorley BR, Elliott EJ
Commun Dis Intell (2018) 2022 Oct 20;46 doi: 10.33321/cdi.2022.46.66. PMID: 36303401
Teutsch SM, Nunez CA, Morris A, Eslick GD, Khandaker G, Berkhout A, Novakovic D, Brotherton JML, McGregor S, King J, Egilmezer E, Booy R, Jones CA, Rawlinson W, Thorley BR, Elliott EJ
Commun Dis Intell (2018) 2021 Oct 28;45 doi: 10.33321/cdi.2021.45.59. PMID: 34711146
Larson DA, Derkay CS
APMIS 2010 Jun;118(6-7):450-4. doi: 10.1111/j.1600-0463.2010.02619.x. PMID: 20553527

Prognosis

Teutsch SM, Nunez CA, Morris A, McGregor S, King J, Brotherton JM, Novakovic D, Booy R, Jones CA, Rawlinson W, Thorley BR, Elliott EJ
Commun Dis Intell (2018) 2020 Aug 17;44 doi: 10.33321/cdi.2020.44.60. PMID: 32829700
Deverell M, Phu A, Zurynski Y, Elliott E
Commun Dis Intell Q Rep 2017 Sep 1;41(3):E284-E289. PMID: 29720077
Deverell M, Zurynski YA, Elliott EJ; all chief investigators of APSU surveillance studies
Commun Dis Intell Q Rep 2014 Dec 31;38(4):E343-2. PMID: 25631597
Larson DA, Derkay CS
APMIS 2010 Jun;118(6-7):450-4. doi: 10.1111/j.1600-0463.2010.02619.x. PMID: 20553527

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