Presentation
Circular hyperkeratotic knuckle-pad like thickenings were present on all proximal interphalangeal joints and some knuckles [Figure - 4]. [ijdvl.com]
CASE REPORT A 15-year-old female presented with diffuse palmoplantar thickening that had been present from birth. In the beginning, the lesions were limited to only her fingertips. [synapse.koreamed.org]
CASE PRESENTATION: A Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. [hal-riip.archives-ouvertes.fr]
Case presentation A Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. [jmedicalcasereports.biomedcentral.com]
CASE REPORT: A 20 year old female patient presented on 3/10/13 to the outpatient department of Dermatology Venereology and Leprosy with history of thickening of skin over palms and soles from 6 months of age. [jemds.com]
Entire Body System
-
Nail Abnormality
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]
-
Asymptomatic
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]
-
Anemia
On clinical examination she had severe anemia. The skin on palms and soles were thick, waxy and yellow with loss of dermatoglyphics. [jemds.com]
-
Gangrene
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]
Jaw & Teeth
-
High Arched Palate
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]
-
Dental Caries
There was no history of hearing impairment, eye problem, or dental caries. [idoj.in]
Ears
-
Hearing Impairment
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]
Skin
-
Hyperhidrosis
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]
-
Skin Lesion
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]
-
Papule
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]
-
Eczema
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]
-
Short Nails
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]
Psychiatrical
-
Suggestibility
[…] 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]
Treatment
Because the various treatments may offer symptomatic relief, it is important to be aware that continuous treatment is necessary in the management of this life-long disease. [synapse.koreamed.org]
Standard Therapies Treatment The treatment of Meleda disease is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Fig-4 Figure 5: Flexion deformity with black pigmentation due to cashew paste application with onychogryphosis (Before treatment) Fig-5 Figure 6: Flexion deformity with black pigmentation due to cashew paste application (After treatment). Fig-6 [jemds.com]
Other hyperkeratotic conditions that must be differentiated from MdM include ichthyosis, psoriasis, lichen planus and mycosis fungoides. 4 Managing This Condition Oral retinoids are the mainstay of treatment for MdM, and many patients require long-term [the-dermatologist.com]
Epidemiology
Issue release date: 2001 Number of Print Pages: 7 Number of Figures: 4 Number of Tables: 0 ISSN: 1018-8665 (Print) eISSN: 1421-9832 (Online) For additional information: Abstract Luca Stulli of Dubrovnik (Ragusa), 1772–1828, was one of the first to make epidemiologic [karger.com]
The first epidemiological study was carried out by Kogoj. 6-8 The autosomal recessive inheritance of the disease was described in 1938, and in 1998 mutations were identified in the ARS B gene on chromosome 8q24.3, which codes for SLURP-1 (the secreted [scielo.br]
Prevention
Tight junctions have been proposed to have two mutually exclusive functions: a fence function which prevents the mixing of membrane proteins between the apical and basolateral membranes; and a gate function which controls the paracellular passage of ions [tandfonline.com]
GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding. Circ Res 2015; 116:624–32. 7 Beigneux AP, Davies BSJ, Tat S et al. [docksci.com]