Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. [uniprot.org]

It is associated with brachydactyly and nail abnormalities. Mental retardation may also occur. [genome.jp]

Brachydactyly with short cone-shaped fingers and nail abnormalities, such as koilonychia or pachyonychia, are frequently associated features. [jamanetwork.com]

Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis). Mal de Meleda is a rare disorder; its prevalence is unknown. [ghr.nlm.nih.gov]

In addition, patients may develop keratotic plaques over joints, nail abnormalities, brachydactyly, pseudoanihum and perioral erythema. [1] In 2001, mutations in the gene encoding secreted Ly-6/uPAR-related protein 1 (SLURP-1) located on the chromosome [idoj.in]

Available from: Sir, Two siblings female and male of age 12 and 10 years born out of a second degree consanguineous marriage presented with a small patch of asymptomatic peeling of the skin over the palms since birth. [idoj.in]

On clinical examination she had severe anemia. The skin on palms and soles were thick, waxy and yellow with loss of dermatoglyphics. [jemds.com]

Another interesting feature being acquired black pigmentation of fingers and nails which was due to cashew shell paste application mistaken for dry gangrene was saved. [jemds.com]

high arched palate and corneal lesion. [jemds.com]

Other rare features include lingua plicata, syndactyly, high arched palate and left handedness, and hair on the palms and soles. [2] Case Report Three sisters (out of five), aged six, four & one year and born of a consanguinous marriage between first [ijdvl.com]

There was no history of hearing impairment, eye problem, or dental caries. [idoj.in]

There was no history of hearing impairment, eye problem, or dental caries. [idoj.in]

There was no history of hearing impairment and eye problems. Two other siblings, parents and relatives did not have similar complaints. On clinical examination she had severe anemia. [jemds.com]

Abstract Meleda disease (mal de Meleda) MIM *248300 is an autosomal recessive disorder, clinically characterised by transgressive palmoplantar keratoderma, hyperhidrosis and perioral erythema. [nature.com]

There was hyperhidrosis of palms and soles & a history of similar palmoplantar thickening in the paternal grandmother of the children. The pedigree was as shown in [Figure - 1]. [ijdvl.com]

Hyperhidrosis with maceration is feature of MDM and is often accompanied by malodour. [idoj.in]

The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. [monarchinitiative.org]

Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. [uniprot.org]

Histopathology of skin lesions showed hyperkeratosis, hypergranulosis and acanthosis and a perivascular mononuclear cell infiltrate in the upper dermis. [idoj.in]

Some individuals with Meleda disease may exhibit small, firm raised skin lesions (lichenoid plaques) in areas affected by hyperkeratosis. [rarediseases.org]

Fig-1 Figure 2: Hyperkeratotic warty papules Fig. 2 Figure 3: Palmoplantar keratoderma Fig-3 Figure 4: Lip involvement with angular cheilitis. [jemds.com]

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 [e-ijd.org]

It may be associated with hyperkeratotic plaques on the dorsa of hands, feet, knees, elbows and medial malleoli, erythema of palms and soles, erythema of nose, cheek and perioral eczema, hyperhidrosis and slow progression. [ijdvl.com]

The fingers were short. Nails were normal. Circular hyperkeratotic knuckle-pad like thickenings were present on all proximal interphalangeal joints and some knuckles [Figure - 4]. [ijdvl.com]

[…] individuals suffering from plague and leprosy, which facilitated reproductive isolation and inbreeding. 4 While the incidence of MdM in Meleda is approximately 1 in 200, 5 additional cases have been reported from various other countries, prompting the suggestion [the-dermatologist.com]

A common haplotype was observed in the two families, suggesting a founder effect. [nature.com]

Our studies suggest that SLURP1-G86R could be useful for those types of studies. SLURP1-G86R can British Journal of Dermatology (2015) 173, pp1066–1069 be expressed at high levels in insect cells and, as in WT-SLURP1, is secreted as monomers. [docksci.com]