44 一新生女嬰，因出生時全身被羊皮紙般的薄膜披覆（collodion membrane）而照會皮膚科。身體診查 除了眼瞼輕微外翻（ectropion）外，口腔黏膜、頭髮及指甲為正常。經二週的皮膚照護，薄膜逐漸脫 落，但患者開始在全身長出許多厚、粗、黑棕色的皮屑，伴隨手腳掌角化。經基因突變分析發現在 TGM1（transglutaminase 1）基因有一 compound heterozygous missense 的突變。此患者最可能罹患下 列何種疾病？
(A)表皮溶解性過度角化症（epidermolytic hyperkeratosis）
(B)旋線狀魚鱗癬（ichthyosis linearis circumflexa）
(C)尋常性魚鱗癬（ichthyosis vulgaris）
(D)體染色體隱性遺傳層狀魚鱗癬（autosomal recessive lamellar ichthyosis）

Netherton syndrome is characterized by scaly skin, abnormal hair, and increased risk of atopy. Scale can assume a characteristic pattern called ichthyosis linearis circumflexa, which manifests as migratory, erythematous plaques with double-edged scale at the periphery. Examination of the hair frequently reveals trichorrhexis invaginata, which is visible using light microscopy as a bamboo-like configuration in which the distal hair shaft invaginates into the proximal one. Patients experience manifestations of the atopic triad including atopic dermatitis, food allergy, and asthma and often have marked elevation of serum immunoglobulin E (IgE). Itching can be severe.