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PEDIATRIC DERMATOLOGY
Year : 2000  |  Volume : 66  |  Issue : 1  |  Page : 32-33

Lamellar ichthyosis - An update



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How to cite this article:
. Lamellar ichthyosis - An update. Indian J Dermatol Venereol Leprol 2000;66:32-3

How to cite this URL:
. Lamellar ichthyosis - An update. Indian J Dermatol Venereol Leprol [serial online] 2000 [cited 2014 Apr 20];66:32-3. Available from: http://www.ijdvl.com/text.asp?2000/66/1/32/4859


The term 'ichthyosis' is used less frequently, as it is imprecise and may have a derogatory connotation to patients. William et al[l] have reclassified these diseases as disorders of cornification (DOC) and numbered them 1 through 24. Lamellar ichthyosis (LI) is an autosomal recessive has been known by several terms including DOC 4 (lamellar-recessive type), nonbullous congenital icthyosiform erythroderma, nonerythrodermic autosomal recessive lamellar ichthyosis, ichthyosis congenita, and classic LI.

Infants with LI are often born preterm and may be encased in a taut membrane that resembles collodion, hence the term "collodion baby". However, the collodion membrane is not specific for LI and it can also be seen as manifestation of congenital ichthyosiform erythroderma (CIE) and other diseases. [2]sub

Lamellar ichthyosis and congenital ichthyosiform erythroderma are two different disorders of cornification based on disparities in clinical presentation, lipid abnormalities, enzymatic studies and cellular kinetics. The skin in LI is covered with large, thick, dark scales that have a plate-like appearance. Sometimes, there is overlap of the scales producing a "rippled" effect.[3] In contrast, CIE is milder than LI; scales on the body are finer and whiter in color, but erythroderma is more prominent. CIE is a hyperproliferative keratosis, while LI is a retention hyperkeratosis.[4] Light microscopy shows massive thickening of the stratum corneum with a normal granular layer and mild acanthosis. Parakeratosis can be seen but not as striking as in CIE.[3]

Severe congenital ichthyosis of the neonate includes several major subtypes:

1. Harlequin ichthyosis

2. Lamellar ichthyosis (LI)

1.Congenital bullous ichthyosiform erythroderma

2.Nonbullous congenital ichthyosiform erythroderma.

The aetiology of LI is heterogeneous: at least three different chromosomal regions have been implicated in some families of LI, transglutaminase 1 gene mutations were identified as causative genetic defects. [5]sub Pena et alb observed higher filaggrin expression in scales, which correlated with better prognosis. According to them, filaggrin can be used as a prognostic marker as well as being a marker of the basic defect involved in LI.

Patients with LI often have profound hypohidrosis and are at risk for hyperpyrexia in hot climates. The mainstays of treatment are keratolytics, emollients, and oral retinoids. The most commonly used synthetic oral retinoid is etretinate. It is used in daily dosage of 1 to 2mg/kg/day.[7] The clinical aspectsof the patients show changes within 4-6 weeks, the skin loses most of the scales and the ectropion and the eclabium are considerably reduced. However, to maintain patient free of lesions, administration of etretinate on a long-term basis is required. In long - term treatment, the most important side effects reported are skeletal abnormalities [8] like hyperostosis slender long bones, ligament and tendon calcifications, premature epiphyseal closure. Glover et all found no evidence of skeletal toxicity in their series of children treated continuously with low doses of etretinate (1mg./kg./day). Paige et al [10] treated 42 children over a period of 11 years, with no evidence of skeletal toxicity. In contrast, Waisman et all reported failure of etretinate to produce beneficial effect in a dose of 1mg./kg./day, inspite of adequate plasma levels of the drug.

Recently Ganemo et a1 reported good results with use of 5% lactic acid and 20% propylene glycol in fatty cream (Lcobasa). Hofmann et all' used tazarotene 0.05% gel in the treatment of congenital ichthyosis,and found it very effective and well tolerated. It can be an alternative to systemic retinoid therapy.

Lamellar ichthyosis is known to be associated with systemic organ involvement. Two instances need special mention. Elbaum et al reported two cases of LI, who later developed squamous cell carcinoma. We as dermatologists, tend to overlook eye involvement in LI. Apart from ectropion, LI as a disease per se can involve, in the form of ichthyosis, keratinization, hyperkeratosis, parakeratosis and papilla formation. The ectropion seen in the LI is of the cicatricial type and appears to be a result of excessive dryness of the skin, with subsequent contracture of the anterior lamella of the lid. Lagophthalmos may develop, exposure keratitis occurs because of drying of the cornea, making it susceptible to minor trauma, and may result in corneal ulceration, vascularization, and corneal scarring.

 
  References Top

1.Williams ML, Elias PM. Genetically transmitted, generalized disorders of cornification. Dermatol Clin 1987; 5: 155-178.  Back to cited text no. 1  [PUBMED]  
2.Schachner LA, Hansen RC. Ichthyosis and disorders of cornification. In: Pediatric Dermatology. 2n ed. New York, Churchill Livingstone, 1996; PP 413 - 464.  Back to cited text no. 2    
3.Ammirati CT, Mallory SB. The major inherited disorders of cornification. New advances in pathogenesis. Dermatol Clin 1998; 16:497-508.  Back to cited text no. 3    
4.Huber M,Marks R. Clinical, histologic and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 1985;121:489-493.  Back to cited text no. 4    
5.Huber M, Rettler I, Bernasconi K, et al. Lamellar ichthyosis is genetically heterogenous-Cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995; 105: 653-654.  Back to cited text no. 5    
6.Pena Penabad C, Perez Arellano IL, Becker E, et al. Different patterns of filaggrin expression in lamellar ichthyosis. Br J Dermatol 1998; 139:958-964.  Back to cited text no. 6    
7.Orfanos CE, Ehlert R, Gollnick H.The retinoids: A review of their clinical pharmacology and therapeutic use. Drugs 1987; 34: 459.  Back to cited text no. 7    
8.Ruiz - Maldonado R, Tamayo - Sanchez L, Orozco-Covarrubias MLL.. The use of retinoids in the pediatric patient. Dermatol Clin 1998; 16: 553-569.  Back to cited text no. 8    
9.Glover MT, Peters AM, Atherton JA. Surveillance for skeletal toxicity of children treated with etretinate. Br J Dermatol 1987; 116:609.  Back to cited text no. 9    
10.Paige DG, Judge MR, Shaw DG, et al. Bone changes and their significance in children with ichthyosis on long-term etretinate therapy. Br J Dermatol 1992; 127:387.  Back to cited text no. 10    




 

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