Case Of Lamellar Ichthyosis Research Articles

" Bilateral Ectropion in Lamellar Ichthyosis: A Rare Congenital Condition"

Ichthyosis is a heterogenous group of dermatoses characterized by the presence of fish-like scales. The scaling is generally worse in winter. Ichthyotic disorders are usually inherited but may sometimes be acquired. Present case report describes a case of Lamellar Ichthyosis. Ichthyosis is classified into congenital and acquired types which are further subdivided as (1): A) Congenital Ichthyosis: i. Ichthyosis Vulgaris ii. X-linked Ichthyosis iii. Lamellar Ichthyosis iv. Non-bullous Ichthyosis-form Erythroderma v. Epidermolytic hyperkeratosis B) Acquired Ichthyosis I. Infections(leprosy) II. Drugs (clofazimine) III. Malignancies (lymphoma) IV. Nutritional deficiencies V. Metabolic disorders (hypothyroidism) VI. Systemic Diseases (sarcoidosis) C) Lamellar Ichthyosis Lamellar Ichthyosis is a rare congenital condition with equal distribution in both genders. At birth, child usually presents as a collodion (lacquered) baby ensheathed in a membrane; when the membrane sheds, typical scales manifest. Inheritance is Autosomal Recessive. It involves generalized body involvement which begins as collodion baby; after the membrane is shed, patient develops large thick, brown, pasted scales (fish- like) scales which persists for life. Flexures may show continuous linear rippling. Erythema is minimal; when present, it is maximum on the face. It is associated with generalized lesions, accentuated on lower extremities and flexural areas [1]. Other associated features may include • Ectropion and eclabium. • Rippled hyperkeratosis around joints which may be verrucous. • Palmer and plantar keratoderma, a frequent feature. • Crumpled ears. Molecular defect involves abnormality of gene present on chromosome 14q11, which encodes for transglutaminase [2]. Herein, we are presenting a case of Lamellar Ichthyosis associated with Bilateral Ectropion.

Lamellar ichthyosis with severe vitamin D deficiency rickets and myopathy in siblings

Vitamin D deficiency and rickets are not uncommon associations with keratinizing disorders. Children with ichthy- osiform erythroderma are more prone to develop vitamin D deficiency and rickets, due to decreased exposure to sunlight, and dietary insufficiency. We report a case of lamellar ichthyosis in two siblings with vitamin D deficiency developing severe rickets and musculoskeletal features with myopathy.

Epidermolytic hyperkeratosis with Vitamin D deficiency rickets in a 5-year-old Indian girl

We report a 5-year-old child with hyperkeratotic lesions over upper and lower limbs, with bowing of legs and limping. It was proved to be epidermolytic hyperkeratosis (EHK) with nutritional rickets on the basis of clinical, biochemical, radiological and histopathological findings. Although many cases of lamellar ichthyosis and X-linked ichthyosis with rickets have been reported, the association of EHK with rickets is rare (the first such association being reported in 2004). Such association being rare demands careful follow-up for signs and symptoms of rickets so that treatment can be started early.

Lamellar ichthyosis with bilateral ectropion

Lamellar ichthyosis is a rare congenital disorder with ocular manifestation resulting from the cicatrization of anterior lamella of eyelids. Early diagnosis and management of ectropion can prevent the most severe complications such as severe dry eyes, corneal perforation, and possible loss of the eye. This case report highlights a case of lamellar ichthyosis with mild ectropion which was managed conservatively.

A case of lamellar ichthyosis with rickets and carcinoma of the hypopharynx.

Lamellar ichthyosis (LI) is an autosomal recessive disorder rarely associated with systemic organ involvement and development of carcinoma. Rickets has occasionally been described with LI owing to impaired vitamin D synthesis following altered keratinization. There has also been a high association of cutaneous cancers in patients of LI. We as Dermatologists should therefore be very meticulous while doing a full work up of these patients. We report here a case of LI associated with rickets and carcinoma of the hypopharynx.

Microbial keratitis in a case of lamellar ichthyosis

We report a case of microbial keratitis in a patient with lamellar ichthyosis. An 11-year-old boy, a known case of lamellar ichthyosis, presented with microbial keratitis. Microbiological evaluation of corneal scraping revealed a mixed infection caused by gram-negative bacilli and gram-positive cocci. He was treated with topical ciprofloxacin and fortified cefazolin eyedrops. Microbial keratitis in patients with lamellar ichthyosis has a poor prognosis.

Analysis of the Cornified Cell Envelope in Lamellar Ichthyosis

Loricrin and involucrin are major precursor proteins to the cornified cell envelope expressed late in epidermal differentiation. Involucrin expression starts in the upper spinous layers in normal human epidermis and precedes loricrin expression, which is restricted to the granular layer. Subsequently, both proteins become cross-linked by the activity of transglutaminases TGK/E as major components of the cornified cell envelope by N epsilon-(gamma-glutamyl)lysine isopeptide bonds. In this study, three cases of lamellar ichthyosis were analyzed by immunohistologic study with antibodies to loricrin, involucrin, filaggrin, and transglutaminase TGK. A high expression of loricrin and involucrin with a peculiar and abnormal cytoplasmic staining concurred with a diminished cytoplasmic staining of transglutaminase TGK as assessed by antibodies B.C.1 and K.D.3. This pattern was absent in a collodion baby at birth but present 2 weeks later before a phenotype of lamellar ichthyosis appeared clinically. The results suggest that in our cases of lamellar ichthyosis, (1) disturbed membrane anchorage of transglutaminase TGK could alter loricrin and involucrin cross-linkage and the formation of the cornified cell envelope and that (2) immunohistologic study might serve as an early diagnostic and prognostic tool in the treatment of collodion babies.

Analysis of the cornified cell envelope in lamellar ichthyosis

<h3>• Background.—</h3> Loricrin and involucrin are major precursor proteins to the cornified cell envelope expressed late in epidermal differentiation. Involucrin expression starts in the upper spinous layers in normal human epidermis and precedes loricrin expression, which is restricted to the granular layer. Subsequently, both proteins become cross-linked by the activity of transglutaminases TGK/E as major components of the cornified cell envelope by N^ε-(γ-glutamyl)lysine isopeptide bonds. In this study, three cases of lamellar ichthyosis were analyzed by immunohistologic study with antibodies to loricrin, involucrin, filaggrin, and transglutaminase TGK. <h3>Observations.—</h3> A high expression of loricrin and involucrin with a peculiar and abnormal cytoplasmic staining concurred with a diminished cytoplasmic staining of transglutaminase TGK as assessed by antibodies B.C.1 and K.D.3. This pattern was absent in a collodion baby at birth but present 2 weeks later before a phenotype of lamellar ichthyosis appeared clinically. <h3>Conclusions.—</h3> The results suggest that in our cases of lamellar ichthyosis, (1) disturbed membrane anchorage of transglutaminase TGK could alter loricrin and involucrin cross-linkage and the formation of the cornified cell envelope and that (2) immunohistologic study might serve as an early diagnostic and prognostic tool in the treatment of collodion babies. (<i>Arch Dermatol.</i>1993;129:618-624)