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E-IJD CASE REPORT
Year : 2015  |  Volume : 60  |  Issue : 5  |  Page : 524
Mal de meleda with congenital cataract: A novel case report


1 Department of Skin and S.T.D, Dayanand Medical College and Hospital, Ludhiana, India
2 Department of Pathology, S.T.D, Government Medical College, Amritsar, Punjab, India
3 Department of Skin and S.T.D, Government Medical College, Amritsar, Punjab, India

Date of Web Publication4-Sep-2015

Correspondence Address:
Anisha Sethi
C/O Sh. A.K Sethi, Kucha Thakur Singh, I/S Delhi Gate, Ferozepur - 152 002, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.159655

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   Abstract 

Mal de meleda (MdM), a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens) and extend to the dorsal aspects of the hands and feet (transgrediens). It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.


Keywords: Congenital cataract, Mal de meleda, palmoplantar keratoderma


How to cite this article:
Sethi A, Janda JK, Sharma N, Malhotra S K. Mal de meleda with congenital cataract: A novel case report. Indian J Dermatol 2015;60:524

How to cite this URL:
Sethi A, Janda JK, Sharma N, Malhotra S K. Mal de meleda with congenital cataract: A novel case report. Indian J Dermatol [serial online] 2015 [cited 2019 Dec 8];60:524. Available from: http://www.e-ijd.org/text.asp?2015/60/5/524/159655

What was known?

  • Palmoplantar keratodermas are rare genodermatosis.
  • Mal de Meleda is associated with varied manifestations.
  • Ocular lens and skin have the same embryological origins.



   Introduction Top


Keratosis palmoplantaris transgrediens of Siemens or  Mal de Meleda More Details (MdM) is a rare autosomal recessive genodermatosis with a prevalence of one in one lakh. [1] It is named after the Dalmatian island of Meleda where its relative frequency is due to inbreeding. [2] The keratoderma usually begins between 0 and 3 years of age and is characterized by progressive "transgradiens" i.e., extension on the dorsal surface of hands and feet, hyperkeratotic plaques on the dorsum of the hands, feet, knee elbows, medial malleoli, perioral erythema, hyperhidrosis and nail changes. [2]

Although MdM has been associated with varied nail, lip and perioral changes, ocular associations have been rarely described in the English literature, which were found in our present case.


   Case Report Top


A 10-year-old female born of consanguineous marriage [Figure 1] presented to the dermatological consult for gradually increasing thickening of palms and soles since infancy and progressing to involve dorsal aspect of hands and feet associated with hyperhidrosis. There was history of posterior subcapsular cataract extraction with an intraocular lens placement in the left eye at the age of 3 months. There was family history of palmoplantar keratoderma in paternal grandmother and congenital cataract in one of the cousins. She had two siblings aged 12-year female and 14-year male, who had no similar complaints [Figure 2]a.
Figure 1: The pedigree chart with arrow depicting affected individuals

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Figure 2: (a) Hands of patient and siblings. (b) Showing hyperkeratotic lesions on knee

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On examination, palms and soles showed diffuse erythema and palmoplantar keratoderma extending on the dorsal surface of hands and feet with sharp margins [Figure 3]a and b. Irregular erythematous hyperkeratotic papules were present on bilateral knees [Figure 2]b]. Teeth and hair showed no abnormality. General physical examination was unremarkable except that she was left handed. The left eye showed pseudophakia. The right eye was normal. Laboratory investigations including complete blood counts were within normal limits. A skin biopsy from the right palmar margin was preformed which showed hyperkeratosis, parakeratosis, psorasiform acanthosis and mild perivascular chronic inflammatory infiltrate. She was treated with oral vitamin. A 50,000 IU/day for 15 days and topical salicylic acid and urea, to which she responded well as the erythema and hyperkeratosis of the lesions decreased [Figure 4].
Figure 3: Diffuse erythema and palmoplantar keratoderma extending on the dorsal surface of hands and feet with sharp margins

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Figure 4: Pre and post treatment (decreased erythema and hyperkeratosis) palmar lesions

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   Discussion Top


The nosology of palmoplantar keratodermas (PPKs) is complex. They can be both autosomal dominant and recessive [Table 1]. [3],[4] There is a great interindividual variation in the clinical manifestations of MdM which should be differentiated from other similar syndromes. Autosomal recessive PPK's which should be differentiated are Olmsted syndrome which is a cicatrizing syndrome with involvement of hair, nail and mucosa. Papillon Lefevre syndrome is characterized by palmoplantar hyperkeratosis, severe periodontitis and premature loss of teeth. [3],[4] MdM should be differentiated from other autosomal dominant types like Thost Unna PPK by the absence of transgradiens; Greither's disease which spares the palms and soles and tends to improve with age; Huriez syndrome which is a triad of congenital scleroatrophy of distal extremities, lamellar keratoderma and nail changes; Vohwinkel's syndrome by characteristic honeycomb-like keratoderma, stellate keratoses, sensorineural deafness. [3],[4] Our patient fitted into the diagnosis of MdM. The obligatory and facultative clinical features of MdM are discussed in [Table 2]. [5]
Table 1: The different patterns of inherited palmoplantar keratodermas


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Table 2: Obligatory and facultative features of Mal de Meleda type of PPK


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MdM may be associated with hyperkeratotic plaques on the dorsa of hands, feet, knees, elbows and medial malleoli, erythema of palms and soles, perioral eczema, hyperhidrosis. Fingers may be short and nails may show koilonychia or subungual hyperkeratosis. Other rare features include lingua plicata, syndactyly, high arched palate, left handedness, hair on the palms and soles. [6]

Ocular associations of MdM have been described by Durmus et al., in a case presenting with bilateral macular deposits. [7]

Congenital cataract is a major eye abnormality often leading to blindness. Non-syndromic familial cataracts are usually inherited as a dominant trait, while the autosomal recessive and X-linked forms are less common. There are only two reports of congenital cataract and MdM in a consanguineous Tunisian family. [8] Genetic studies have reported splice variation (c. 1327 + 4A-G) in the HSF4 gene in autosomal recessive congential cataracts. But how far are they involved in MdM associated with congenital cataracts needs deeper understanding at the genetic level and further genetic analyses to confirm or exclude the involvement of the HSF4 gene or one of the loci. [9],[10]

While there have been few case reports of MdM from India, associations, e.g. perioral erythema, [11] hyperkeratotic knuckle pads, [10],[11] have been reported sparsely. To the best of our knowledge, the coexistence of both MdM and congenital cataract in the same patient of Indian origin has not been reported previously. The two phenotypes might segregate separately, although their co-occurrence could be more than a coincidental finding as the lens and the skin have the same embryological origins.

 
   References Top

1.
Bouadjar B, Benmazouzia S, Prud'homme JF, Cure S, Fischer J. Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda. Arch Dermatol 2000;136:1247-52.  Back to cited text no. 1
    
2.
Jee SH, Lee YY, Wu YC, Lü YC, Pan CC. Report of a family with Mal de meleda in Taiwan, a clinical, histopathological and immunological study. Dermatologica 1985;171:30-7.  Back to cited text no. 2
    
3.
Zemtsov A, Veitschegger M. Keratoderma. Int J Derm 1993;32:493-8.  Back to cited text no. 3
    
4.
Salaman T, Berberovic L, Topic B. Mal de Meleda-Data and Remarks on a series. G Ital Dermatol Venereol 1988;123:649-55.  Back to cited text no. 4
    
5.
Durmuº M, Bardak Y, Ozertürk Y, Baysal V. Ocular and dermatologic findings in two siblings with mal de Meleda. Retina 1999;19:247-50.  Back to cited text no. 5
    
6.
Bchetnia M, Merdassi A, Charfeddine C, Mgaieth F, Kassar S, Ouechtati F, et al. Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: Two case reports. J Med Case Rep 2010;4:108.  Back to cited text no. 6
    
7.
Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, et al. High frequency of the V548A fs X572 XPC mutation in Tunisia: Implication for molecular diagnosis. J Hum Genet 2009;54:426-9.  Back to cited text no. 7
    
8.
Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, et al. Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis. J Inherit Metab Dis 2007;30:989.  Back to cited text no. 8
    
9.
Nath AK, Chaudhuri S, Thappa DM. Mal de Meleda with lip involvement: A report of two cases. Indian J Dermatol 2012;57:390-3.  Back to cited text no. 9
[PUBMED]  Medknow Journal  
10.
Yadav BS, Sonawane SN, Deshpande PR, Risbud. Palmoplantar keratoderma-Mal de Meleda type. Indian J Dermatol Venereol Leprol 1994;60:359-61.  Back to cited text no. 10
  Medknow Journal  
11.
Pandhi D, Reddy BS. Mal de Meleda type of keratoderma. Indian J Dermatol 2001;46:252-4.  Back to cited text no. 11
  Medknow Journal  

What is new?

  • Ocular manifestations have been sparsely reported with MdM
  • Congenital cataract may be associated with MdM by the virtue of the HSF4 gene involvement.


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2]



 

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