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

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]

We present a case of MdM which showed significant clinical improvement with acitritin. [clinical-medicine.panafrican-med-journal.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. [jmedicalcasereports.biomedcentral.com]

• Nail Abnormality

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

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

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

  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]

• Tachycardia

  […] premature loss of teeth 13 ; cathepsin C was recently identified as the gene responsible for this disorder. 14 Mal de Naxos (MIM 601214) is also an autosomal recessive PPK characterized by additional cardiac symptoms such as cardiomegaly and ventricular tachycardia [jamanetwork.com]

• Cardiomegaly

  […] periodontal lesions and premature loss of teeth 13 ; cathepsin C was recently identified as the gene responsible for this disorder. 14 Mal de Naxos (MIM 601214) is also an autosomal recessive PPK characterized by additional cardiac symptoms such as cardiomegaly [jamanetwork.com]

• Myopathy

  This study was supported by the Association Française Contre les Myopathies, Evry, France. We thank the family members for their participation. [jamanetwork.com]

• Dry Eyes

  Due to intolerable dry eyes and lips caused by oral acitretin, the patient stopped taking it. 3 Discussion PPK, characterized by erythema and hyperkeratosis, is a genetically heterogeneous group of skin diseases. [journals.lww.com]

• 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]

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

  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]

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

• Intertrigo

  It also showed an intertrigo macerated in inter-digital and diffuse inter-toe mycotic. Diffuse xanthopachyonichia associated with koilonychia in places. The lips were erythematous, dry with mild hyperkeratosis, with lingual keratosis (Figure 4). [clinical-medicine.panafrican-med-journal.com]

• Epistaxis

  Dose-related side effects include cheilitis, mucosal dryness, epistaxis, urticarial or morbilliform eruptions, and alopecia.20 Reports have found Tigason (etretinate) more helpful in treating keratinization but less effective with associated erythema.8 [the-dermatologist.com]

• Polyneuropathy

  CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. Blood 2013; 121:129–35. 9 Eckl KM, Stevens HP, Lestringant GG et al. [docksci.com]

• Free Fatty Acids Increased

  Kuster et al13 demonstrated abnormal lipid patterns in the stratum corneum of several patients with different hereditary forms of PPK, including decreased amounts of total ceramides and increased amounts of free fatty acids. [the-dermatologist.com]

• Trichophyton Rubrum

  Trichophyton rubrum was cultured in 8 cases, and periodic acid–Schiff–positive spores were seen in sections of the stratum corneum in 2 patients. Microscopic examination of skin scrapings revealed no dermatophytes in all cases, however. [jamanetwork.com]

The patient is still on treatment for 6 months. [clinical-medicine.panafrican-med-journal.com]

[edit] Treatment can consist of topical lotions, drug therapies, and surgery. [en.wikipedia.org]

[…] action=getRecordDetail&idt=21343636 Other title Surgical treatment of keratosis palmaris in Mal de Meleda (en) Author MARCHAC, A1 ; BLANCHET-BARDON, C2 ; REVOL, M1 ; SERVANT, J. [pascal-francis.inist.fr]

This responded to treatment with etretinnte. [onlinelibrary.wiley.com]

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]

[edit] With treatment the prognosis can be good for people with this disease.[9] Quality of life can possibly can be decreased, therefore getting treatment is recommended.[6] Too much dry skin can be painful for some and cause discomfort.[8] There is [en.wikipedia.org]

The patients with MDM are characterized by high degree of consanguinity and inbreeding.[2] The genetic etiology of MDM is the mutations in SLURP-1 gene which is involved in keratinocyte apoptosis regulation.[3] In MDM, the property of mutant SLURP-1 proteins [journals.lww.com]

Rudan I, Campbell H, Rudan P: Genetic epidemiological studies of Eastern Adriatic Island isolates, Croatia: Objectives and strategies. Coll Antropol 1999;23:531–546. [karger.com]

Epidemiology[edit] Mljet Island located off of Croatia Most cases of Meleda Disease have been reported in and around the former Yugoslavia. [en.wikipedia.org]

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]

[…] of the mutated allele and pass it to their kids.[6] Inbreeding within families can cause Meleda disease to be prevalent.[9] Meleda disease can be associated with other skin conditions such as skin discoloration, skin thickness, and skin peeling.[6] Pathophysiology [en.wikipedia.org]

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]

[…] having plague and other diseases in 1826.[9] On the island, inbreeding is believed to have occurred and Meleda disease became apparent.[9] Research Directions[edit] Current research is directed to find more treatments, and to see if there is any way to prevent [en.wikipedia.org]