Table 1.
Clinical Features and MBTPS2 Genotypes of IFAP Patients and Family Members
| Proband | Origin | Sex | Clinical Features | Genotype |
|---|---|---|---|---|
| 1-I:1 | G | m | n.a. | WT |
| 1-I:2 | G | f | dry skin, congenital bald patches of the scalp | c.680T/WT |
| 1-I:3 | G | m | n.a. | WT |
| 1-II:1 | G | m | n.a. | WT |
| 1-II:2 | G | f | dry skin, congenital bald patches of the scalp, asymmetrical distribution of body hair, linear lesions of scaling, atrophy and hypohidrosis on arms and back | c.680T/WT |
| 1-II:3 | G | m | n.a. | WT |
| 1-II:4 | G | m | n.a. | WT |
| 1-II:5 | G | m | IFAP triad with pronounced photophobia; death at 1 year of age. | n.t. |
| 1-III:1 | G | m | IFAP triad, eczematous changes of shoulders and limbs, frequent skin infections, nail dystrophy, ptosis of left upper eyelid | c.680T |
| 1-III:2 | G | f | dry skin, linear lesions of scaling and atrophy, predominantly involving the left arm, congenital bald area of the scalp | c.680T/WT |
| 2-I:2 | A | f | sparse hair | c.261A/WT |
| 2-II:2 | A | f | unaffected carrier | c.261A/WT |
| 2-II:3 | A | f | n.a. | WT/WT |
| 2-II:5 | A | m | n.a. | WT |
| 2-II:7 | A | m | n.a. | WT |
| 2-II:8 | A | m | alopecia, dystrophic finger nails | c.261A |
| 2-III:1 | A | m | IFAP triad, psoriasiform plaques on elbows, knees and heels, absence of eyebrows, dystrophic nails, recurrent skin infections, no neurological anomalies | c.261A |
| 2-III:2 | A | f | sparse scalp hair, dystrophic fingernails | c.261A/WT |
| 2-III:4 | A | f | n.a. | WT/WT |
| 2-III:5 | A | f | n.a. | WT/WT |
| 2-III:6 | A | f | n.a. | WT/WT |
| 2-III:7 | A | f | n.a. | WT/WT |
| 2-III:8 | A | m | n.a. | WT |
| 2-III:9 | A | f | patchy scalp hair, dystrophic fingernails | c.261A/WT |
| 2-III:10 | A | f | unaffected carrier | c.261A/WT |
| 2-III:11 | A | m | n.a. | WT |
| 2-III:12 | A | m | n.a. | WT |
| 2-IV:1 | A | m | n.a. | WT |
| 2-IV:2 | A | m | IFAP triad, dystrophic nails, perlèche | c.261A |
| 3-I:2 | G | f | dry skin | c.1286A/WT |
| 3-II:2 | G | f | linear lesions of atrophoderma, linear hairless scalp lesion, hyperkeratotic plaque on right knee, bilateral plantar keratoderma | c.1286A/WT |
| 3-II:4 | G | f | linear lesions of atrophoderma, partial absence of retinal rods (R eye) | c.1286A/WT |
| 3-II:5 | G | f | unaffected carrier | c.1286A/WT |
| 3-II:6 | G | m | atrichia, cleft hand, death in neonatal period | n.t. |
| 3-II:7 | G | m | atrichia, cleft hand, death in neonatal period | n.t. |
| 3-III:1 | G | f | unaffected carrier | c.1286A/WT |
| 3-III:2 | G | f | n.a. | WT/WT |
| 3-III:3 | G | m | IFAP triad, initially in the form of collodium baby; dermatitis on arms and legs, sensitiveness to cow's milk, motor retardation, general dystrophy, cleft palate, unilateral cleft hand, two butterfly vertebrae, absence of a kidney, bilateral inguinal hernia, omphalocele, stenosis of small intestine, Hirschsprung disease, death at 9 months of age | n.t. |
| 3-III:4 | G | m | IFAP triad, microcephaly, arachnoidal cyst, Arnold-Chiari malformation type I, thoracolumbar hydromyelia, seizures, psychomotor retardation, retrognathia, deficient growth, cleft hands, butterfly vertebra, wedge-shaped vertebra, atrial septum defect, arterial hypertension, recurrent infections of upper airways, absence of a kidney, hypospadia, choanal stenosis, inguinal hernia, Hirschsprung disease; death at 14 months of age | n.t. |
| 4-I:1 | S | m | IFAP triad with pronounced photophobia, dermatitis on arms and legs, corneal pannus (mother has dry skin and bald patches on her scalp) | c.677T |
| 5-I:1 | Ar | m | IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism | c.1424C |
| 6-I:2 | Al | f | n.a. | c.225-6A/WT |
| 6-II:1 | Al | m | IFAP triad | c.225-6A |
| 6-II:4 | Al | m | IFAP triad | c.225-6A |
IFAP triad: generalized scaling, complete atrichia, and photophobia. Al, Algeria; Ar, Argentina; A, Australia; G, Germany; S, Spain; n.a., not affected; n.t., not tested; WT, wild-type.