Nath Amiya Kumar, Chaudhuri Sangita, Thappa Devinder Mohan
Department of Dermatology and STD, Indira Gandhi Medical College and Research Institute, Pondicherry, India.
Indian J Dermatol. 2012 Sep;57(5):390-3. doi: 10.4103/0019-5154.100497.
Mal de Meleda is a rare autosomal recessive transgradient palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for spontaneous resolution. Involvement of the lip by keratoderma has not been reported in the English literature. Here we present two cases of Mal de Meleda with unusual lip involvement. The first case was a 15-year-old girl, born of second-degree consanguineous marriage, who presented with transgradient palmoplantar keratoderma from 6 months of age, with lichenoid papules and plaques on the elbows and knees, conical tapering of the distal digits, flexion deformity of several fingers, digital constriction, knuckle pads and lip involvement. The second case was a 24-year-old male with transgradient palmoplantar keratoderma since birth. He also had scaly plaques on the extensors of bilateral knees and elbows, knuckle pads, pseudosclerodermatous fingers with conical tapering, digital constrictions at various places with mild flexion deformity and lip involvement. Both patients were otherwise normal without any family history.
梅勒达病是一种罕见的常染色体隐性遗传性进行性掌跖角化病，其特征为进行性角化病伴硬化萎缩、指甲改变、手指周围假阿洪病和口周红斑，且无自发缓解倾向。英文文献中尚未报道过角化病累及唇部的情况。在此，我们报告两例梅勒达病伴唇部异常受累的病例。第一例是一名15岁女孩，出生于二级近亲结婚家庭，6个月大时出现进行性掌跖角化病，肘部和膝部有苔藓样丘疹和斑块，远端手指呈圆锥形变细，多个手指有屈曲畸形、手指缩窄、指节垫且唇部受累。第二例为一名24岁男性，自出生起就患有进行性掌跖角化病。他双侧膝部和肘部伸侧也有鳞屑性斑块、指节垫、呈圆锥形变细的假硬皮病样手指、多处手指缩窄伴轻度屈曲畸形以及唇部受累。两名患者其他方面均正常，且无家族史。
