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Perifollicular hyperkeratosis

MedGen UID:
870422
Concept ID:
C4024867
Disease or Syndrome
HPO: HP:0007468

Definition

Increased amount of keratin (visible as white scales) surrounding hair follicles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPerifollicular hyperkeratosis

Conditions with this feature

Beaded hair
MedGen UID:
108185
Concept ID:
C0546966
Congenital Abnormality
Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).

Professional guidelines

PubMed

Banka N, Mubki T, Bunagan MJ, McElwee K, Shapiro J
Int J Dermatol 2014 Nov;53(11):1324-30. Epub 2014 Apr 16 doi: 10.1111/ijd.12479. PMID: 24738979

Recent clinical studies

Etiology

Banka N, Mubki T, Bunagan MJ, McElwee K, Shapiro J
Int J Dermatol 2014 Nov;53(11):1324-30. Epub 2014 Apr 16 doi: 10.1111/ijd.12479. PMID: 24738979
Rogers NE
J Drugs Dermatol 2013 Mar;12(3):283-90. PMID: 23545910
Raynaud-Simon A, Cohen-Bittan J, Gouronnec A, Pautas E, Senet P, Verny M, Boddaert J
J Nutr Health Aging 2010 Jun;14(6):407-10. doi: 10.1007/s12603-010-0032-y. PMID: 20617280

Diagnosis

Yu HNZ, Chia SY
BMJ Case Rep 2023 Dec 30;16(12) doi: 10.1136/bcr-2023-258819. PMID: 38160038Free PMC Article
Gallo G, Pileri A, Starace M, Alessandrini A, Guglielmo A, Ribero S, Quaglino P, Piraccini BM
Sci Rep 2021 May 18;11(1):10555. doi: 10.1038/s41598-021-90168-9. PMID: 34006952Free PMC Article
Banka N, Mubki T, Bunagan MJ, McElwee K, Shapiro J
Int J Dermatol 2014 Nov;53(11):1324-30. Epub 2014 Apr 16 doi: 10.1111/ijd.12479. PMID: 24738979
Solanki M, Baweja DK, Patil SS, Shivaprakash PK
J Dent Child (Chic) 2011 Jul;78(2):115-9. PMID: 22041118
Raynaud-Simon A, Cohen-Bittan J, Gouronnec A, Pautas E, Senet P, Verny M, Boddaert J
J Nutr Health Aging 2010 Jun;14(6):407-10. doi: 10.1007/s12603-010-0032-y. PMID: 20617280

Therapy

Yu HNZ, Chia SY
BMJ Case Rep 2023 Dec 30;16(12) doi: 10.1136/bcr-2023-258819. PMID: 38160038Free PMC Article
Surjana D, Robertson I, Kennedy G, James D, Weedon D
Australas J Dermatol 2015 Feb;56(1):e21-3. Epub 2013 Oct 8 doi: 10.1111/ajd.12108. PMID: 25688705
Banka N, Mubki T, Bunagan MJ, McElwee K, Shapiro J
Int J Dermatol 2014 Nov;53(11):1324-30. Epub 2014 Apr 16 doi: 10.1111/ijd.12479. PMID: 24738979
Solanki M, Baweja DK, Patil SS, Shivaprakash PK
J Dent Child (Chic) 2011 Jul;78(2):115-9. PMID: 22041118
Weinstein M, Babyn P, Zlotkin S
Pediatrics 2001 Sep;108(3):E55. doi: 10.1542/peds.108.3.e55. PMID: 11533373

Prognosis

Banka N, Mubki T, Bunagan MJ, McElwee K, Shapiro J
Int J Dermatol 2014 Nov;53(11):1324-30. Epub 2014 Apr 16 doi: 10.1111/ijd.12479. PMID: 24738979
Maltos AL, Silva LL, Bernardes Junior AG, Portari GV, Cunha DF
Rev Soc Bras Med Trop 2011 Jan-Feb;44(1):122-3. doi: 10.1590/s0037-86822011000100029. PMID: 21340425
Raynaud-Simon A, Cohen-Bittan J, Gouronnec A, Pautas E, Senet P, Verny M, Boddaert J
J Nutr Health Aging 2010 Jun;14(6):407-10. doi: 10.1007/s12603-010-0032-y. PMID: 20617280

Clinical prediction guides

Banka N, Mubki T, Bunagan MJ, McElwee K, Shapiro J
Int J Dermatol 2014 Nov;53(11):1324-30. Epub 2014 Apr 16 doi: 10.1111/ijd.12479. PMID: 24738979

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