Pitfalls in Clinical Diagnosis of Female Carriers of X-linked Hypohidrotic Ectodermal Dysplasia

V‐Shaped Hyperpigmented Linear Lesions, Patchy Hypotrichosis, and Teeth Abnormalities in a Young Girl

“…Generally, the starch‐iodine test detects heterozygous carriers with mild manifestations (4). However, the mutation search has to be considered a first‐line diagnostic test to detect asymptomatic carriers (5).…”

V‐Shaped Hyperpigmented Linear Lesions, Patchy Hypotrichosis, and Teeth Abnormalities in a Young Girl

“…Generally, the starch‐iodine test detects heterozygous carriers with mild manifestations (4). However, the mutation search has to be considered a first‐line diagnostic test to detect asymptomatic carriers (5).…”

Displasia Ektodermal Hipohidrotik

“…Kira-kira 30% tidak menunjukkan manifestasi klinis. 19 Starchiodine test dan biopsi kulit dapat membantu mendeteksi adanya perempuan pembawa gen mutan. 11,13 Kasus ini adalah seorang anak laki-laki dengan riwayat keluarga diduga pamannya juga menderita DEH.…”

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X‐linked hypohidrotic ectodermal dysplasia

“…XLHED is due to mutations in EDA, a member of the tumor necrosis factor family of signal transduction factors, located close to the X inactivation center 4 . A missense mutation on the same locus was previously identified (p.G198A), 5 suggesting a casual relationship between the mutant G198 and XLHED.…”

V‐Shaped Hyperpigmented Linear Lesions, Patchy Hypotrichosis, and Teeth Abnormalities in a Young Girl

“…Generally, the starch‐iodine test detects heterozygous carriers with mild manifestations (4). However, the mutation search has to be considered a first‐line diagnostic test to detect asymptomatic carriers (5).…”

Displasia Ektodermal Hipohidrotik

“…Kira-kira 30% tidak menunjukkan manifestasi klinis. 19 Starchiodine test dan biopsi kulit dapat membantu mendeteksi adanya perempuan pembawa gen mutan. 11,13 Kasus ini adalah seorang anak laki-laki dengan riwayat keluarga diduga pamannya juga menderita DEH.…”

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X‐linked hypohidrotic ectodermal dysplasia

“…XLHED is due to mutations in EDA, a member of the tumor necrosis factor family of signal transduction factors, located close to the X inactivation center 4 . A missense mutation on the same locus was previously identified (p.G198A), 5 suggesting a casual relationship between the mutant G198 and XLHED.…”

V‐Shaped Hyperpigmented Linear Lesions, Patchy Hypotrichosis, and Teeth Abnormalities in a Young Girl

“…Generally, the starch‐iodine test detects heterozygous carriers with mild manifestations (4). However, the mutation search has to be considered a first‐line diagnostic test to detect asymptomatic carriers (5).…”

Displasia Ektodermal Hipohidrotik

“…Kira-kira 30% tidak menunjukkan manifestasi klinis. 19 Starchiodine test dan biopsi kulit dapat membantu mendeteksi adanya perempuan pembawa gen mutan. 11,13 Kasus ini adalah seorang anak laki-laki dengan riwayat keluarga diduga pamannya juga menderita DEH.…”

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X‐linked hypohidrotic ectodermal dysplasia

“…XLHED is due to mutations in EDA, a member of the tumor necrosis factor family of signal transduction factors, located close to the X inactivation center 4 . A missense mutation on the same locus was previously identified (p.G198A), 5 suggesting a casual relationship between the mutant G198 and XLHED.…”