IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.
BACKGROUND
Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature.


OBJECTIVE
To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis.


METHODS
A 16-year-old male presented with typical clinical features of IFAP, along with psoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities and chorea-like movements. DNA analysis was performed in the patient and his clinically unaffected mother, maternal grandmother and sisters.


RESULTS
A novel missense mutation p.Cys334Tyr (c.1001G>A) was found in exon 8 of the MBTPS2 gene. This mutation was also found in his clinically unaffected mother and maternal grandmother, but not his healthy sisters.


CONCLUSIONS
This patient with IFAP, the first described from Poland, is original by virtue of its extensive skeletal, cutaneous and neurologic manifestations and the novel missense mutation of the MBPTS2 gene. The identification of a novel mutation further expands the known MBPTS2 molecular repertoire and the spectrum of associated clinical findings.
Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Poland.
Aldona
A
Pietrzak
Jean
J
Kanitakis
Grzegorz
G
Staśkiewicz
Agnieszka
A
Sobczyńska-Tomaszewska
Ewa
E
Dybiec
Justyna
J
Szumiło
Grzegorz
G
Kandzierski
Bartłomiej
B
Wawrzycki
Grażyna
G
Chodorowska
D000293:Adolescent; D000505:Alopecia / Q000150:complications / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000235:genetics*; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics; D020125:Mutation, Missense; D010641:Phenotype; D020795:Photophobia / Q000150:complications / Q000235:genetics*; D011044:Poland; D012720:Severity of Illness Index; D012871:Skin Diseases / Q000235:genetics
D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human