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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
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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

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
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
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review.
Rand R, Baden HP
Arch Dermatol 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. PMID: 6336927

Diagnosis

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
Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.
Fouzdar-Jain S, Suh DW, Rizzo WB
Ophthalmic Genet 2019 Aug;40(4):298-308. Epub 2019 Sep 12 doi: 10.1080/13816810.2019.1660379. PMID: 31512987
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
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
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

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
Papillon-Lèfevre syndrome with palmoplantar keratoderma and periodontitis, a rare cause of pyrexia of unknown origin: a case report.
Iqtadar S, Mumtaz SU, Abaidullah S
J Med Case Rep 2015 Dec 18;9:288. doi: 10.1186/s13256-015-0773-7. PMID: 26683691Free PMC Article
Pseudosclerodermatous triad of perniosis, pulp atrophy and 'parrot-beaked' clawing of the nails--a newly recognized syndrome of chronic crack cocaine use.
Payne-James JJ, Munro MH, Rowland Payne CM
J Forensic Leg Med 2007 Feb;14(2):65-71. doi: 10.1016/j.jcfm.2006.01.013. PMID: 17650550
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
Benign skin changes associated with chronic sunlight exposure.
Goldberg LH, Altman A
Cutis 1984 Jul;34(1):33-8, 40. PMID: 6467973

Prognosis

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
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
Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.
Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G
Acta Derm Venereol 2008;88(6):607-12. doi: 10.2340/00015555-0547. PMID: 19002348
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
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review.
Rand R, Baden HP
Arch Dermatol 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. PMID: 6336927

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
Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Cohen-Barak E, Azzam W, Koetsier JL, Danial-Farran N, Barcan M, Hriesh M, Khayat M, Edison N, Krausz J, Gafni-Amsalem C, Kubo A, Godsel LM, Ziv M, Allon-Shalev S
Exp Dermatol 2022 Feb;31(2):214-222. Epub 2021 Aug 17 doi: 10.1111/exd.14444. PMID: 34379845Free PMC Article
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
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S
Dis Model Mech 2017 Feb 1;10(2):105-118. Epub 2016 Dec 15 doi: 10.1242/dmm.026476. PMID: 28067622Free 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

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