A Japanese Gentleman with Reticulate Pigmentation
نویسنده
چکیده
Physical examination A reticulate hyperpigmented macular rash was present at the axillae, groins, extensor aspect of the upper limbs, buttocks, and thighs (Figure 1). Poikilodermatous changes were observed, with hypopigmented macules, epidermal atrophy and telangiectasia (Figure 2). Erythematous patches with epidermal atrophy were also seen, especially over the abdomen and chest (Figure 3). There were no mucosal lesions, palmar pits or nail dystrophy. No lymph nodes were palpable and hepatosplenomegaly was not detected.
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Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members.
DEAR EDITOR, Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare subtype of EBS that is characterized by blistering, mottled pigmentation of the trunk and limbs, punctate hyperkeratosis of the palms and soles, and dystrophic nails. EBS-MP is caused by a mutation in the KRT5 or KRT14 gene encoding keratin 5 (K5) and keratin 14 (K14), respectively. Dermatopathia pigmentosa ...
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When the patient was 28 years old, he developed reticulate hyperpigmentation of the neck and upper trunk, with palmoplantar hyperkeratosis and hyperhidrosis and nail dystrophy (Fig. 1). His son (aged 8 years at the time) also began to experience similar pigmentary changes and nail dystrophy. At the time of the current referral (the patient is now 47 years old), the reticulate pigmentation had s...
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