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CASE REPORT
Year : 2016  |  Volume : 17  |  Issue : 2  |  Page : 125-128

Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases


Department of Dermatology, Venereology, Leprosy, Mamata Medical College and Hospital, Khammam, Telangana, India

Date of Web Publication30-Mar-2016

Correspondence Address:
K Pratyusha
Villa No. 115, Ramky Pearl, HMT Sathavahana Colony, Kukatpally, Hyderabad - 500 072, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.172464

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  Abstract 

Lamellar ichthyosis (LI) is a rare skin disorder inherited as an autosomal recessive trait. Affected babies are born in a collodion membrane that sheds gradually revealing extensive scaling of the skin. The present communication is intended to provide the details of oral isotretinoin therapy in the management of LI in six children. The dose of oral isotretinoin which produced maximum clearing of the lesions with minimum side effects was found to vary from 0.6 mg/kg to 1 mg/kg body weight among these children and the duration of therapy lasted from 6 to 16 weeks. Therapeutic improvement varied from excellent in four and mild to satisfactory in two children and cheilitis of the lips was observed to be the main side effect.

Keywords: Isotretinoin, lamellar ichthyosis, scaling


How to cite this article:
Pratyusha K, Sree P D, Reddy B. Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases. Indian J Paediatr Dermatol 2016;17:125-8

How to cite this URL:
Pratyusha K, Sree P D, Reddy B. Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Nov 14];17:125-8. Available from: http://www.ijpd.in/text.asp?2016/17/2/125/172464


  Introduction Top


Lamellar ichthyosis (LI), also known as ichthyosis lammellaris is a rare autosomal recessive skin disorder. The literal meaning of lamellar is arranged in multiple layers or plate-like.[1] This disorder is characterized by large grayish brown scales that are adherent at the center and free at the edges.[2] Affected babies are born in a collodion membrane, a shiny outer layer to the skin. This is shed 10–14 days after birth revealing the classical picture of the disease in the form of extensive scaling of the skin. Ocular manifestations include exposure keratitis, megalocornea, enlarged corneal nerve, blepharitis, the absence of the meibomian glands, the absence of lacrimal puncta, trichiasis, ectropion of both upper and lower lids have been documented.[3]

We report six cases of LI that responded to oral isotretinoin therapy.


  Case Reports Top


Cases 1 and 2

A 6-year-old male child presented to our outpatient clinic with complaints of scaly skin eruption and fissuring all over the body since birth. He was the first child of the family and the parents were first degree relatives. A history of collodion membrane was present.

The examination of the child revealed hyperpigmented and hyperkeratotic scales was present all over the body. The scales were quadrilateral in shape, adherent at the center, and free at the margins. In addition, he had severe bilateral ectropion and watering of the eyes and fissuring over palms and soles [Figure 1].
Figure 1: Classical features of case 1

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The child had a 3-year-old brother with similar complaints (case 2). On examination characteristic clinical features are similar to case 1 [Figure 2].
Figure 2: Features of case 2

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Cases 3 and 4

Two brothers of age 7 years and 12 years came with the complaints of scaly eruption all over the body since birth. A history of parental consanguinity was present. On examination, in addition to the features seen in case 1, contractures of the toes were present in these children [Figure 3] and [Figure 4].
Figure 3: Features of case 3

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Figure 4: Features of case 4

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Case 5

A 3-year-old female child presented with complaints of scaly skin eruption all over the body since birth. A history of consanguineous marriage in parents was present. The history of collodion membrane was present. In addition to the typical features as in case 1, this child had stiffness and contractures of the fingers and toes bilaterally and nail dystrophy [Figure 5].
Figure 5: Features of case 5

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Case 6

A 12-year-old female child presented to our clinic with complaints of scaly eruption all over the body and watering of eyes since birth. A history of consanguinity of parents was present. She had features similar to case 1 [Figure 6].
Figure 6: Features of case 6

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All these six children have been taking treatment from general practitioners since birth without much improvement.

Methods

Occasional case reports are available in the literature about the varying therapeutic response of LI to oral retinoids.[4],[5],[6] To focus more light on this subject, we studied the therapeutic response of oral isotretinoin in six children of LI.

Preevaluation of all children was done before starting the therapy including complete blood picture, fasting lipid profile, liver function tests, kidney function tests, and a skeletal survey to find out suitability for oral retinoid therapy.

Based on the severity of the LI, oral isotretinoin was given in doses ranging from 0.6 mg/kg to 1 mg/kg body weight to these children and the dose of the drug which produced maximum resolution of the lesions with minimum side effects was noted. In addition, these children were advised to use liberally topical emollients and keratolytics.

Satisfactory resolution of lesions was observed after 2 weeks of initiation of therapy in all the patients and excellent improvement was noted in four patients [Figure 7],[Figure 8],[Figure 9] and satisfactory improvement in two patients.
Figure 7: (a) Pretreatment picture of case 2. (b) picture of case 2 taken after 14 weeks of treatment with tablet isotretinoin 5 mg

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Figure 8: (a) Pretreatment picture of case 1. (b) picture of case 1 taken after 14 weeks of treatment with tablet isotretinoin 10 mg

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Figure 9: (a) Pretreatment picture of case 5. (b) picture of case 5 taken after 10 weeks of treatment with tablet isotretinoin 5 mg

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All of these were monitored throughout the course of treatment, and no untoward effects have been observed except for cheilitis. The therapy lasted 6–16 weeks.


  Discussion Top


LI is a refractory genodermatosis having limited therapeutic options. Topical treatments include generous and frequent applications of emollients and keratolytic agents such as retinoic acid (0.1% cream) lactic acid, urea, a mixture of lactic acid and propylene glycol, and calcipotriol.[4]

Among systemic therapies similar to the children of LI reported in the present series oral retinoids (isotretinoin) have been found to improve the external appearance of skin by shedding the scales through keratolytic and keratoplastic properties in sporadic case reports.[4],[5],[6]

Our patients were initially started on 0.6 mg/kg body weight and the dose has been gradually increased up to 1 mg/kg body weight depending on severity and response to treatment. Therapeutic response was found to be excellent in four and satisfactory in two patients.

Similar observations were found by other workers also: El-Ramly and Zachariae and Tamayo et al. reported cases of ichthyosis showing satisfactory improvement of skin condition with oral retinoids.[5],[6] Therapeutic response with oral isotretinoin therapy in our patients of LI is comparable to above studies.

Toxicities for oral retinoids may include acute mucocutaneous cheilitis, xerosis, dry nose, irritation of eyes, photosensitivity, retinoid dermatitis, hair loss, alteration in hair texture, hypertriglyceridemias, and chronic enthesopathy and diffuse idiopathic skeletal hyperostosis.[7]

None of these effects was noted in our patients except for cheilitis.


  Conclusion Top


LI is a chronic refractory genodermatosis and oral retinoids together with emollients provide dramatic relief for scaling in severe LI patients.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial Support and Sponsorship

Nil.

Conflicts of Interest

There are no conflicts of interest.

 
  References Top

1.
Shwayder T. Ichthyosis in a nutshell. Pediatr Rev 1999;20:5-12.  Back to cited text no. 1
    
2.
Odom RB, James WD, Berger TG. Some genodermatoses and acquired syndromes. Andrews' Diseases of the Skin. 9th ed. Philadelphia: WB Saunders; 2000. p. 701-6.  Back to cited text no. 2
    
3.
Chakraborti C, Tripathi P, Bandopadhyay G, Mazumder DB. Congenital bilateral ectropion in lamellar ichthyosis. Oman J Ophthalmol 2011;4:35-6.  Back to cited text no. 3
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4.
Cakmak A, Baba F, Cakmak S, Shermatov K, Karazeybek H. Treatment of congenital ichthyosis with acitretin. Internet J Pediatr Neonatol 2007;8:1.  Back to cited text no. 4
    
5.
El-Ramly M, Zachariae H. Long-term oral treatment of two pronounced ichthyotic conditions: Lamellar ichthyosis and epidermolytic hyperkeratosis with the aromatic retinoid, tigason (RO 10-9359). Acta Derm Venereol 1983;5:452-6.  Back to cited text no. 5
    
6.
Tamayo L, Ruiz-Maldonado R. Oral retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma. Dermatologica 1980;5:305-14.  Back to cited text no. 6
    
7.
DiGiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro J. systemic retinoids in the management of of ichthyoses and related skin types. Dermatologic Therapy 2013;26:10.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]


This article has been cited by
1 Dry scaly skin in a 12-year-old boy
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[Pubmed] | [DOI]



 

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