U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

MedGen UID:
374340
•Concept ID:
C1839910
•
Disease or Syndrome
Synonyms: Dwarfism, cerebral atrophy and generalized keratosis follicularis; Keratosis follicularis dwarfism and cerebral atrophy
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010638
OMIM®: 308830
Orphanet: ORPHA2339

Definition

A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. [from ORDO]

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Cerebral atrophy
MedGen UID:
116012
•Concept ID:
C0235946
•
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Absent eyebrow
MedGen UID:
98133
•Concept ID:
C0431448
•
Congenital Abnormality
Absence of the eyebrow.
See: Feature record | Search on this feature
Absent hair
MedGen UID:
108274
•Concept ID:
C0574763
•
Finding
See: Feature record | Search on this feature
Absent eyelashes
MedGen UID:
334299
•Concept ID:
C1843005
•
Congenital Abnormality
Lack of eyelashes.
See: Feature record | Search on this feature
Generalized keratosis follicularis
MedGen UID:
870433
•Concept ID:
C4024879
•
Disease or Syndrome
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKeratosis follicularis-dwarfism-cerebral atrophy syndrome
Follow this link to review classifications for Keratosis follicularis-dwarfism-cerebral atrophy syndrome in Orphanet.

Professional guidelines

PubMed

Cutaneous aspects of the XXYY genotype. A variant of Klinefelter's syndrome.
Peterson WC, Gorlin RJ, Peagler F, Bruhl H
Arch Dermatol 1966 Dec;94(6):695-8. PMID: 5923433

Recent clinical studies

Etiology

Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.
Castro JTS, Saab CL, Souto MPA, Ortolam JG, Steiner CE, Rezende TJR, Reis F
Arq Neuropsiquiatr 2023 Sep;81(9):809-815. Epub 2023 Oct 4 doi: 10.1055/s-0043-1772601. PMID: 37793403Free PMC Article
Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Can atrophic-erosive oral lichen planus promote cardiovascular diseases? A population-based study.
Conrotto D, Barattero R, Carbone M, Gambino A, Sciannameo V, Ricceri F, Conrotto F, Broccoletti R, Arduino PG
Oral Dis 2018 Mar;24(1-2):215-218. doi: 10.1111/odi.12700. PMID: 28627728
Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E
Ophthalmology 2015 Aug;122(8):1730-2. Epub 2015 Mar 14 doi: 10.1016/j.ophtha.2015.02.003. PMID: 25784589Free PMC Article
Treatment of patient with Papillon-Lefevre syndrome with short dental implants: a case report.
Etöz OA, Ulu M, Kesim B
Implant Dent 2010 Oct;19(5):394-9. doi: 10.1097/ID.0b013e3181ed0798. PMID: 20881810

Diagnosis

Can atrophic-erosive oral lichen planus promote cardiovascular diseases? A population-based study.
Conrotto D, Barattero R, Carbone M, Gambino A, Sciannameo V, Ricceri F, Conrotto F, Broccoletti R, Arduino PG
Oral Dis 2018 Mar;24(1-2):215-218. doi: 10.1111/odi.12700. PMID: 28627728
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract.
Bhoyrul B, Jones H, Blackford S
Clin Exp Dermatol 2016 Mar;41(2):159-61. Epub 2015 Jul 14 doi: 10.1111/ced.12700. PMID: 26179135
Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E
Ophthalmology 2015 Aug;122(8):1730-2. Epub 2015 Mar 14 doi: 10.1016/j.ophtha.2015.02.003. PMID: 25784589Free PMC Article
Kindler syndrome: report of two cases and review of the literature.
Forman AB, Prendiville JS, Esterly NB, Hebert AA, Duvic M, Horiguchi Y, Fine JD
Pediatr Dermatol 1989 Jun;6(2):91-101. doi: 10.1111/j.1525-1470.1989.tb01004.x. PMID: 2664740
Genetic syndromes associated with cerebral palsy.
Fisher RL, Russman BS
Clin Orthop Relat Res 1974 Mar-Apr;(99):2-11. doi: 10.1097/00003086-197403000-00001. PMID: 4825718

Therapy

Analysis of Paparella Type 1 tympanostomy tubes in pediatric patients: A single-center retrospective review.
Demir M, Işık AÜ, Arslan S, Çobanoğlu HB, Bahadır O, İmamoğlu M
Int J Pediatr Otorhinolaryngol 2023 Dec;175:111751. Epub 2023 Oct 10 doi: 10.1016/j.ijporl.2023.111751. PMID: 37839293
Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).
König A, Happle R
Am J Med Genet 1999 Aug 6;85(4):365-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<365::aid-ajmg12>3.0.co;2-#. PMID: 10398262
Palmoplantar keratoderma with amyotrophy.
Jacyk WK, Bill PL
Dermatologica 1988;176(5):251-6. doi: 10.1159/000248713. PMID: 2968285
Benign skin changes associated with chronic sunlight exposure.
Goldberg LH, Altman A
Cutis 1984 Jul;34(1):33-8, 40. PMID: 6467973
Mutilating palmoplantar keratoderma successfully treated with etretinate.
Wereide K
Acta Derm Venereol 1984;64(6):566-9. PMID: 6084939

Prognosis

Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Can atrophic-erosive oral lichen planus promote cardiovascular diseases? A population-based study.
Conrotto D, Barattero R, Carbone M, Gambino A, Sciannameo V, Ricceri F, Conrotto F, Broccoletti R, Arduino PG
Oral Dis 2018 Mar;24(1-2):215-218. doi: 10.1111/odi.12700. PMID: 28627728
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract.
Bhoyrul B, Jones H, Blackford S
Clin Exp Dermatol 2016 Mar;41(2):159-61. Epub 2015 Jul 14 doi: 10.1111/ced.12700. PMID: 26179135
Treatment of patient with Papillon-Lefevre syndrome with short dental implants: a case report.
Etöz OA, Ulu M, Kesim B
Implant Dent 2010 Oct;19(5):394-9. doi: 10.1097/ID.0b013e3181ed0798. PMID: 20881810
p53 expression in dyskeratosis congenita: a marker for oral premalignancy?
Ogden GR, Lane DP, Chisholm DM
J Clin Pathol 1993 Feb;46(2):169-70. doi: 10.1136/jcp.46.2.169. PMID: 8459038Free PMC Article

Clinical prediction guides

Analysis of Paparella Type 1 tympanostomy tubes in pediatric patients: A single-center retrospective review.
Demir M, Işık AÜ, Arslan S, Çobanoğlu HB, Bahadır O, İmamoğlu M
Int J Pediatr Otorhinolaryngol 2023 Dec;175:111751. Epub 2023 Oct 10 doi: 10.1016/j.ijporl.2023.111751. PMID: 37839293
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442
p53 expression in dyskeratosis congenita: a marker for oral premalignancy?
Ogden GR, Lane DP, Chisholm DM
J Clin Pathol 1993 Feb;46(2):169-70. doi: 10.1136/jcp.46.2.169. PMID: 8459038Free PMC Article
Familial elastosis perforans serpiginosa.
Langeveld-Wildschut EG, Toonstra J, van Vloten WA, Beemer FA
Arch Dermatol 1993 Feb;129(2):205-7. PMID: 7679569

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...