|Year : 2015 | Volume
| Issue : 5 | Page : 642-644
Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature
Sonia P Jain
Department of Skin and V.D., MGIMS, Sewagram, Wardha, Maharashtra, India
|Date of Web Publication||10-Sep-2015|
Sonia P Jain
A-14 Dhanvantri Nagar, MGIMS, Sewagram, Wardha - 442 102, Maharashtra
Source of Support: Nil., Conflict of Interest: None declared.
Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance. At birth, most affected infants present as collodion babies, and after shedding the membrane, develop scaling over the body in the localized or generalized pattern. Here, we describe this rare condition of lamellar icthyosis with bilateral cicatricial ectropion in a 21-month-old male child. Treatment with topical emollients for skin and eye drops containing antibiotic to prevent secondary infection with eye lubricants were started. We are reporting this case as dermatological and ocular complications had developed in the baby at such a tender age which could have been minimized if treatment were sought earlier by the parents.
Keywords: Cicatricial ectropion, lamellar ichthyosis, the male child
|How to cite this article:|
Jain SP. Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature. Med J DY Patil Univ 2015;8:642-4
|How to cite this URL:|
Jain SP. Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature. Med J DY Patil Univ [serial online] 2015 [cited 2020 Sep 19];8:642-4. Available from: http://www.mjdrdypu.org/text.asp?2015/8/5/642/164959
| Introduction|| |
The epidermis is a multi-layered, stratified epithelium that provides a physical barrier and protect from pathogens and dehydration. The epidermis is continuously regenerated by differentiated keratinocytes that migrate from the basal layer to the outer cornified layer during the process of cornification. In several genetic disorders, such as ichthyosis, the cornification process is altered due to mutations in key components of the keratinocyte differentiation machinery.
The ichthyoses represent a large group of cutaneous disorders characterized by abnormal epidermal differentiation. The word ichthyosis comes from the Greek word ichthys, meaning fish, referring to the cutaneous scaling resembling the scales of a fish. Scaling can be localized or generalized and may be associated with a variety of additional cutaneous and/or systemic manifestations.
In ichthyosis, the barrier function of the skin is impaired and has a decreased ability to protect against bacterial, chemical, and mechanical assault and to prevent transepidermal water loss.
According to the 'First Ichthyosis Consensus Conference' in Sorèze in 2009, in which the nomenclature and classification of inherited ichthyoses were revised, the disease is clinically and genetically identified including harlequin ichthyosis, lamellar ichthyosis (LI), nonbullous congenital ichthyosiformis and congenital ichthyosiformis.
Lamellar ichthyosis is a genetically heterogeneous disorder of keratinization and inherited in an autosomal recessive fashion. LI has an equal incidence in male and female individuals and is estimated to occur in approximately 1 in 300,000 live births.
Patients with LI are typically born encased in a translucent collodion membrane, which is gradually replaced over the 1st month of life with generalized scale. These scales are accentuated in flexural areas as well as on the forehead and lower extremities. Eclabium, ectropion, and scarring alopecia of the scalp are often observed as associated features as sequelae of excessively taut skin. In these patients, heat intolerance frequently occurs due to obstruction of the sweat ducts by plates of the scale. Patients may also develop palmoplantar keratoderma, pseudoainhum, and nail dystrophy. In severe LI, growth is delayed, and both nutritional and Vitamin D deficiency rickets is reported in children. Skin biopsy demonstrates thickened stratum corneum with underlying acanthosis. A prenatal biopsy can also be used to test transglutaminase activity, which serves as a reliable marker for LI.
| Case Report|| |
Parents of 21-month-old child visited our department with the complaints of dark colored, rough scales all over the body along with outward turning of both the upper and lower eyelids since birth [Figure 1].
|Figure 1: Bilateral cicatricial ectropion of both upper and lower eyelids with marked xerosis of scalp and peri-oral area|
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There was no history of consanguineous marriage among the parents. The baby boy was born by the planned cesarean section due to inadequate liquor that was at the end of 8 months of gestation period. He was born within a tight sheath covering whole of the body, with ectropion of both the eyelids. After removing the sheath, he developed large dark scales all over the body in a gradually progressive fashion with persistent ectropion in the eyes [Figure 2] and [Figure 3]. Seasonal history of getting aggravation of scaling in winter was present. Family history was noncontributory.
|Figure 2: Large hyperpigmented icthyotic scales of abdomen and extremities|
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On examination, there were multiple large quadrilateral scales free at the edges and adherent in the center all over the body involving both palms and soles. Cicatricial ectropion was present involving all the four upper and lower eyelids of both sides respectively. No other ocular anomaly was found. Lubricant eye drops with ocular antibiotic drops were started for ectropion. Teeth, hair and nails were found to be normal.
A punch biopsy specimen diagnosed the case as LI with marked hyperkeratosis, hypergranulosis and moderate acanthosis with prominent rete ridges and a mild perivascular infiltrate in the upper dermis.
| Discussion|| |
The present case was a classical presentation of the LI. As this condition has defective cornification and impaired barrier function of the skin, in the neonatal phase, transfer to the neonatal intensive care unit is required for monitoring of fluids, electrolytes, and sepsis. In children and adults, mainstay of treatment are keratolytics, emollients and oral retinoids. The use of emollient remains a cornerstone of treatment for LI. The psychological and emotional status of a child with ichthyosis should be addressed, and complete medical assessment, including social work and ophthamology should be employed. It is important that these cases should be managed right from the day of birth as delay in seeking treatment can be disastrous and can lead to numerous life-threatening irreversible complications. Ectropion, when present, may respond to conservative management in the early period of life in about half of the cases. Surgical correction includes retroauricular full thickness skin graft and lateral tarsal strip procedure for upper eyelids. Lower eyelids can be treated by cheek transposition grafts and lower eyelid lateral tarsal strip procedure.
It becomes mandatory that the treatment of this disease requires multidisciplinary approach. In our patient, there was a lot of the economical restraint so simple emollients with special care of avoiding overheating were advised with a regular follow-up. The management of ectropion was also started with lubricant eye drops containing methyl cellulose regularly, and 0.3% gentamicin sulfate eye drops for 2 weeks as per the advice by ophthalmologist. Patient though was advised regular follow-up did not turnup for further treatment until date. We are reporting this rare presentation of LI at 21 months of age with bilateral cicatricial ectropion, which could be minimized if the patient were given treatment right from the day of birth.
| References|| |
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Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, et al.
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. Cell Death Dis 2012;3:e416.
Victor F, Schaffer JV. Lamellar ichthyosis. Dermatol Online J 2005;11:13.
Judge MR, McLean WH, Munro CS. Disorders of keratinization. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 8th
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Rimoin L, Graham JM Jr. Ichthyotic skin disorders in the neonate. Clin Pediatr (Phila) 2012;51:796-800.
Chakraborti C, Tripathi P, Bandopadhyay G, Mazumder DB. Congenital bilateral ectropion in lamellar ichthyosis. Oman J Ophthalmol 2011;4:35-6.
Ozgur OR, Akcay L, Tutas N, Ozkurt Y. Cicatricial upper and lower eyelid ectropion in an ichthyosis patient. Surgical correction. J Dermatol Case Rep 2011;5:27-9.
[Figure 1], [Figure 2], [Figure 3]