1	ICHTHYOSIS Yuri Oleynikov Edward S Harkness Eye Institute
2	Patient History 37 wk newborn girl with colloidin membrane
3	"The patient was born to..." The patient was born to a 35 year old G4 P4 mother, via normal spontaneous vaginal delivery with Apgars of 9 at one minute and 9 at five minutes. Pregnancy was unremarkable. At delivery, the patient was noted to have a translucent membrane encasing the face, trunk and extremities. She was admitted to the neonatal ICU, placed in a humidifier isolette, started on intravenous fluids, and Aquaphor was applied to the body and eye drops to the eyes. Vital signs and electrolytes remained stable.
4	Family History Parents not consanguineous. Parents have two healthy children together and three healthy children with other partners. Mother’s great-grandmother had a few children with albinism. Maternal grandfather’s sister had a son who grew up with severe peeling skin, no hair and bad teeth. He is now a grown man and continues to have a skin condition.
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9	Ophthalmology examination. Lids and lashes – well-lubricated, with small fragments of membrane on lids, lids closing and opposing well, no ectropion; lashes normal. Conjunctiva and sclera- no injection, small amount of white mucoid non-purulent discharge. Cornea – clear, no opacities, surface irregular with altered wetting properties. Anterior chamber – well formed, clear. Iris – no defects . Lens – no cataracts, media clear. Retina – normal, in place, no retinopathy.
10	Hospital Course The patient was put on generous lubrication with lubricating eye ointment and preservative-free tears. Stable on room air with oxygen saturation in the high 90's. Fed very well with expressed breast milk. On day of life #3, the patient had visible pus from the umbilicus, axilla and inguinal areas. Intravenous Oxacillin was started. Skin culture showed staff aureus sensitive to Oxacillin. Topical Polysporin and Lotrimin were applied to the worst areas.
11	Hospital Course Multiple skin cultures, hair sample and blood smears were also sent. DDx: Congenital ichthyosis, lamellar ichthyosis as well as several rare conditions including: Neutral lipid storage disease, Netherton syndrome. On day of life #7, the skin was noted to be continually improving. The patient had almost entirely shed her colloidin membrane with healthy appearing skin developing in all surfaces.
12	ICHTHYOSIS Meaning “fish-like”, from Greek root "ichthys" – fish relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. disorder of keratinization or cornification due to abnormal epidermal differentiation or metabolism.
13	ICHTHYOSIS Up to 20 disorders fall under ichthyosis But FOUR disticnct types exist: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, X-linked ichthyosis.
14	Ichthyosis Vulgaris Autosomal dominant, most common - 1:300. Associated with atopy, suggested also with testicular cancer. dry skin and follicular accentuation (keratosis pilaris) appear at puberty Involves mostly trunk, abdomen, buttocks, and legs, sparing flexural areas scaling may be present on the eyelid skin, which could lead to punctate epithelial keratitis and recurrent corneal erosion.
15	Lamellar Ichthyosis A.k.a collodion babies. Autosomal recessive, 1:300 000 covered at birth by a thickened membrane that is shed in a few days Involves the whole body, including flexural areas Approximately one third of children develop bilateral ectropion of the cicatricial type as the result of excessive dryness of the skin and contracture. Secondary corneal ulceration may occur secondary to chronic exposure.
16	Lamellar Ichthyosis Harlequin ichthyosis, the most severe form of congenital ichthyosis, is characterized by a profound thickening of the keratin layer in fetal skin. The newborn has massive horny shell of dense platelike scale and contraction abnormalities of the eyes, the ears, the mouth, and the appendages
17	Epidermolytic Hyperkeratosis Autosomal dominant, 1:300 000. Skin is red and , tender and moist at birth. May have bullae, infection of the bullae and foul odor. Thick, generalized scaling follows in few days.
18	X-linked Ichthyosis 1:100 000 in male patients. Much higher in Mexico, UK and Danish population. Associated with hypogonadism and cryptorchidism. scaling is present at or shortly after birth Prominent over extremities, neck, trunk, and buttocks, sparing flexural areas, palms and soles. Distinguished by irregular stromal corneal opacities that are located anterior to the Descemet membrane are found in 16-50% of male and 25% female patients. Not known to affect visual acuity. deficiency of steroid sulfatase in skin fibroblasts and a marked elevation of plasma cholesterol sulfate.
19	Multiple congenital ectodermal dysplastic syndromes KID syndrome - keratitis, ichthyosis, and deafness. Ectoderm disorder affects epidermis, corneal epithelium and inner ear. CHIME syndrome - colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects – a rare ectodermal disorder.
20	Multiple congenital ectodermal dysplastic syndromes Netherton syndrome – rare autosomal recessive syndrome with an ichthyosiform dermatosis, variable erythroderma, hair shaft defects, and atopic features. Sjögren-Larsson syndrome - an autosomal recessive condition that comprises ichthyosis, spastic diplegia, pigmentary retinopathy, and mental retardation.
21	Acquired Ichthyosis Happens in adults Presents with small, white, fishlike generalized scales or concentrated on the extremities. Associated with internal neoplasia (eg, Hodgkin lymphoma, leukemia), systemic illness (eg, sarcoidosis, HIV infection, hypothyroidism, chronic hepatitis, malabsorption), bone marrow transplantation, or the intake of certain medications that interfere with sterol synthesis in epidermal cells (eg, nicotinic acid).
22	Ophthalmologic manifestations Eyelids: Ectropion (lamellar ichthyosis), Blepharitis, Meibomian gland absence (rare) Conjunctiva - Keratinization and thickening secondary to ectropion Cornea: Exposure keratitis secondary to ectropion, Unilateral megalocornea (lamellar ichthyosis), Pre-Descemet opacities (X-linked ichthyosis), Recurrent corneal erosion, Band keratopathy, Salzmann nodules (ichthyosis vulgaris) Enlarged corneal nerves (common to all forms)
23	Ophthalmologic manifestations Microphthalmos (rare) Anterior chamber cleavage syndrome (rare) Retina: Coloboma (CHIME syndrome), Retinitis pigmentosa (Refsum disease), Maculopathy (Sjögren-Larsson syndrome)
24	Treatment: systemic Oral retinoids – work well as antikeratinizing agents. Etretinate and isotretinoin reduce scaling, discomfort, and disfigurement but the sympotms return if discontinued. Liarozole inhibits the cytochrome P450-dependent 4-hydroxylation of retinoic acid, resulting in increased tissue levels of retinoic acid and a reduction in epidermal proliferation and scaling. Patients with epidermolytic hyperkeratosis often need systemic antibiotics.
25	Treatment: ocular Nonpreserved artificial tears (carboxymethylcellulose sodium 0.5-1.0%) and ointment (white petrolatum 56.8%, mineral oil 41.5%) to prevent dryness and exposure, while avoiding preservative side effects. In cases where poor corneal epithelial adhesion is present, bandage contact lenses and temporary collagen shields may decrease symptoms and promote surface healing. To prevent cicatrical ectropion in lamellar ichthyosis – humidified atmosphere and eyelid lubrication. Petrolatum ointment and 10% urea cream used to prevent contracture.