PMC3002416_01
Family pedigree
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F0001
The father of the two siblings married two sisters (second degree consanguinity); one child through his first wife is affected apart from these two siblings borne through his second wife [Figure 1]. A cousin of the affected siblings is also affected [Figure 1].
Woolly hair
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F0002
Clinical examination of the scalp, palms and soles of the siblings revealed sparse, fine, pale, curly, brittle hair having a woolly appearance [Figure 2] and longitudinal hyperkeratosis of striate form of palmoplantar keratoderma [Figure 3a and b, respectively].
(a) Striate palmar keratoderma, (b) striate plantar keratoderma
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F0003
Clinical examination of the scalp, palms and soles of the siblings revealed sparse, fine, pale, curly, brittle hair having a woolly appearance [Figure 2] and longitudinal hyperkeratosis of striate form of palmoplantar keratoderma [Figure 3a and b, respectively].
Right middle lobe syndrome
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F0004
Contrast Computed tomography (CT) of the chest showed bilateral midzone and lingular bronchiectasis with middle lobe syndrome on the right side [Figure 4].