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Case Reports
. 2019 Aug;7(8):e812.
doi: 10.1002/mgg3.812. Epub 2019 Jun 18.

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

Yanyun Jiang  1 , Hongzhong Jin  1 , Yueping Zeng  1
Affiliations
Case Reports

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

Yanyun Jiang et al. Mol Genet Genomic Med. 2019 Aug.

Abstract

Background: The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non-scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2).

Methods: We present an 11-year-old male with typical clinical features of IFAP syndrome, including diffuse follicular hyperkeratosis, alopecia, photophobia, psoriasiform plaques, short statue, nail dystrophy, mental retardation, and seizures.

Results: A novel missense mutation (NM_015884.4: c.1298T > C; NP_056968.1: p. L433P) in the membrane-bound transcription factor peptidase, site 2 gene (MBTPS2) was identified in our patient. The heterozygous MBTPS2 mutation was identified in his mother but not his father.

Conclusion: This study demonstrated a novel MBTPS2 mutation in a patient with IFAP syndrome and thus expands the known MBPTS2 molecular repertoire.

Keywords: MBTPS2; alopecia; ichthyosis follicularis; photophobia.

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Conflict of interest statement

The authors report no conflict of interest.

Figures

Figure 1
Figure 1
The clinical findings in IFAP. (a) Absence of hair, eyelashes, and eyebrows and chronic angular cheilitis around the mouth. (b) Generalized dry skin with widespread follicular papules and flaky scales on the arm. (c) Hyperkeratotic plaques on the elbows and buttock
Figure 2
Figure 2
Histopathological examination of the lesion from the right limb showed hyperkeratosis, focal parakeratosis and follicular plugging of the epidermis, absence of sebaceous glands and mild perivascular inflammatory infiltration in dermis (hematoxylin and eosin staining, bar = 500 μm)
Figure 3
Figure 3
Genomic DNA sequencing of the proband and his parents. (a) Mutation of c.1298T > C is hemizygous in the proband as there is only one X chromosome. (b) The same mutation in heterozygous form was identified in his mother. (c) The sequence of the proband's father was normal
See this image and copyright information in PMC

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