Bilateral Keratoconus with Oculocutaneous Albinism

Letters to Editor of parakeratosis which they designated as “axillary granular AAddressddress fforor ccorrespondence:orrespondence: Dr.I. S. Reddy, B-13, Madhura Nagar, [2] S.R. Nagar Post, Hyderabad – 500 038, India. parakeratosis”. In 1998, Mehregan, Thomas, and Mehregan E-mail: [email protected] described four more cases of granular parakeratosis, including a patient with isolated involvement of the inguinal RREFERENCESEFERENCES region and suggested that the term “axillary granular parakeratosis” may be re-designated as “intertriginous 1. Joshi R, Taneja A. Granular parakeratosis presenting with granular parakeratosis.”[3] Although more common in facial keratototic papules. Indian J Dermatol Venereol Leprol middle-aged and elderly women, granular parakeratosis 2008;74:53-5. 2. Northcutt AD, Nelson DM, Tschen JA. Axillary granular can occur in both sexes and in all age groups. It has been parakeratosis. J Am Acad Dermatol 1991;24:541-4. described in infants as linear and geometric scaly plaques 3. Mehregan DA. Thomas JE, Mehregan DR. Intertriginious [4] over the pressure points beneath their diapers. Rarely, as granular parakeratosis. J Am Acad Dermatol 1998;39:495-6. reported by Joshi and Taneja, it can also occur over non- 4. Chang MW, Kaufmann JM, Orlow SJ, Cohen DE, Mobini N, intertriginous areas such as the face.[1] Contact allergens Kamino H. Infantile granular parakeratosis: Recognition of and physical factors such as heat, moisture, friction, obesity, two clinical patterns. J Am Acad Dermatol 2004;50:593-6. and occlusion from diapers were suspected to play a role. 5. Scheinfeld NS, Mones J .Granular parakeratosis: Pathologic and clinical correlation of 18 cases of granular parakeratosis. The resolution of the lesions in cooler climates points to J Am Acad Dermatol 2005;52:863-7. sweating and friction as two possible factors responsible for 6. Brown SK, Heilman ER. Granular parakeratosis: Resolution the parakeratosis seen in our case. with topical tretinoin. J Am Acad Dermatol 2002;47:S279- 80. It is presumed that granular parakeratosis is a reaction 7. Webster CG, Resnik KS, Webster GF. Axillary granular pattern secondary to various stimuli rather than a distinctive Parakeratosis: Response to isotretinoin. J Am Acad Dermatol 1997;37:789-90. disease.[5] The disturbance in keratinization in the form of 8. Chamberlain AJ, Tam MM. Intertriginous granular a blockade of the conversion of profilaggrin into filaggrin parakeratosis responsive to potent topical corticosteroids. units is suspected to be a basic pathogenic abnormality. Clin Exp Dermatol. 2003;28:50-2. Other than the characteristic distribution of lesions and 9. Burford C. Granular parakeratosis of multiple intertriginous unique histopathological features, granular parakeratosis areas. Australas J Dermatol 2008;49:35-8. has been observed as an incidental histopathologic finding in various unrelated conditions such as dermatomyositis, dermatophytosis, and molluscum contagiosum. BBilateralilateral kkeratoconuseratoconus withwith The therapeutic response of granular parakeratosis to various ooculocutaneousculocutaneous albinismalbinism modalities of treatment has been inconsistent and frequently disappointing, and no controlled therapeutic trials have been conducted. Individual case reports have shown response to Sir, topical tretinoin[6] and to isotretinoin.[7] There are reports Keratoconus (KC) is a progressive, non-inflammatory, in which these eruptions responded to topically applied bilateral, usually asymmetrical disease of the cornea, glucocorticoids,[8] antifungals, and antibiotics, as well as reports characterized by paraxial, stromal thinning that leads which showed no response to the above medications. to corneal surface distortion. Visual disturbance occurs primarily from irregular astigmatism and myopia, and A review of literature confirmed that prevalence of these secondarily from corneal scarring leading to a mild to marked [1] eruptions for 20 years (as observed in our patient) is the impairment in the quality of life. Albinism, a genetically longest of all such reported cases. Involvement of multiple determined heterogeneous group of disorders involving intertriginous areas has been published earlier,[9] and this hypopigmentation of the skin, eyes, hair (oculocutaneous patient is the second such case to be reported. To conclude, albinism) or the eyes alone (ocular albinism), occurs primarily due to a deficiency of tyrosinase, which mediates this case is presented for its rarity, extreme chronicity, and the conversion of tyrosine to melanin.[2] Keratoconus is the involvement of multiple intertriginous areas. commonly an isolated condition despite multiple singular reports of its coexistence with other disorders.[1] We report II.. SS.. RReddy,eddy, GG.. SSwarnalatawarnalata1, TTejalejal MModyody1 Departments of Dermatology and 1Pathology, Apollo Hospitals, here a case of bilateral keratoconus in oculocutaneous Jubilee Hills, Hyderabad 500 033, India albinism which, to the best of our knowledge, has not been

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50 years old Figure 2: A) OCA type 1 in our case, B) Keratoconus with Munson’s sign Figure 1: Pedigree chart showing the youngest sibling also affected by OCA recessive. OCA1 is the most severe form of albinism that reported so far in literature. occurs due to mutations in the tyrosinase [TYR] gene found on chromosome11q14-q21. In OCA 2, pheomelanin A 50 year-old female, a known case of oculocutaneous is produced due to mutations in the OCA2 gene localized albinism (OCA) type 1, presented to us with diminution of to chromosome 15q11.2-q12.[2] vision since her childhood with deterioration for the past four months. She had a history of frequent rubbing of her Most common ocular changes seen in OCA are a reduction eyes and photophobia. She had a positive family history in in the iris and retinal pigment, foveal hypoplasia, which the last sibling was similarly affected [Figure 1]. On misrouting of optic fibres at the optic chiasma, nystagmus, physical examination, she was seen to have light skin and and alternating strabismus.[3] A few other ocular changes light blond hair with poliosis and heterochromia iridum. that have been reported are Duane retraction syndrome,[3] Her skin did not tan and her neck and nape areas showed corneal mesodermal dysgenesis,[4] and congenital signs of photodamage in the form of dermatoheliosis. glaucoma.[5] On ophthalmological examination, both eyes were found to have visual acuity (she was able to see the number of Keratoconus is a slowly progressive condition that often fingers held close to her face) with accurate projection presents in the teenage years or in the early twenties, of rays, horizontal pendular nystagmus, and a positive with decreased vision or visual distortion and a reported Munson’s sign (tenting of the lower lid during a downward incidence of approximately 1 per 2000 in the general gaze) [Figure 2]. On slit lamp examination, her cornea population.[1] It is rarely congenital. Commonly recognized showed thinning with conical protrusion in both the eyes associations are Down’s syndrome, Leber’s congenital (the right more than the left). There was stromal scarring amaurosis, and connective tissue disorders. Atopic in the inferotemporal aspect, Fleisher’s ring (deposition dermatitis has been found to be commonly associated, of hemosiderin at the level of the Bowman’s membrane in a probable mechanism for keratoconus in this condition the base of the cone) and Vogt’s striae (vertical tears in the being the constant rubbing of eyes. Thus, our case is Descemet’s membrane) in the right eye. In both eyes, the unique in that oculocutaneous albinism is associated iris showed transillumination and the lens was cataractous. with keratoconus, altthough this could be an incidental Extended keratometry was 60D in right eye and 52D in the association. left eye. The fundus could not be visualized in either eye due to dense cataracts. Cataract extraction for both eyes VVasudevasudev AnandAnand Rao,Rao, has been planned to manage the patient’s condition and SSwathiwathi PP,, CChaitra,haitra, DDevinderevinder MohanMohan ThappaThappa1 penetrating keratoplasty will be considered at a later date Departments of Ophthalmology and 1Dermatology and STD, for the right eye. Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India

Oculocutaneous albinism (OCA) is the most common AAddressddress fforor ccorrespondence:orrespondence: Dr. Devinder Mohan Thappa, Professor inherited disorder of generalized hypopigmentation, and Head, Department of Dermatology and STD, JIPMER, Pondicherry – 605006, India. E-mail: [email protected] with an estimated frequency of 1:20,000 in most [2] populations. The OCA1 (tyrosine-negative) and OCA2 RREFERENCESEFERENCES (tyrosine-positive) are the most frequently observed types and account for approximately 40 and 50% respectively 1. Rabinowitz YS. Keratoconus. Surv Ophthalmol 1998;42: of OCA cases all over the world. OCA3 and 4 are far less 297-319. frequent.[2] The inheritance pattern is autosomal 2. Bahadoran P, Ortonne JP, King RA, Oetting WS. Abinism. In:

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Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, On examination, the palms were seen to have diffuse Katz SI, editors. Fitzpatrick’s Dermatology in Medicine. 6th scleroatrophy with fissuring and hyperpigmentation [Figure ed. New York: McGraw-Hill; 2003. p. 826-35. 2]. The skin was fragile, the soles were normal, and the 3. Jethani J, Parija S, Shetty S, Vijayalakshmi P. Duane retraction nails showed longitudinal ridging. A raised nodular lesion syndrome associated with oculocutaneous albinism: An measuring around 1 x 1.5 cm was present on the left ocular miswiring. Indian J Ophthalmol 2006;54:283-4. 4. Lubin JR. Oculocutaneous albinism associated with corneal middle finger that was indurated and nontender. There was mesodermal dysgenesis. Am J Ophthalmol 1981;91:347-50. no ulceration or bleeding from the lesion. Routine blood 5. Catalano RA, Nelson LB, Schaffer DB. Oculocutaneous investigations were normal. Excision biopsy was done and albinism associated with congenital glaucoma. Ophthalmic histopathological examination revealed a reactive epithelial Paediatr Genet 1988;9:5-6. hyperplasia with no evidence of malignancy. Based on the history and clinical findings, we made a diagnosis of Huriez syndrome. The patient was given topical tazarotene and HHuriezuriez syndromesyndrome advised to report back if new keratotic lesions appeared. Huriez syndrome is a rare autosomal dominant keratoderma Sir, characterized by scleroatrophy of the palmar skin. The soles [1] Huriez syndrome is a rare autosomal dominant condition are not commonly involved. In addition to its occurrence characterized by scleroatrophy of the palms and the in French patients, it has also been reported in Tunisia, [3] soles, palmoplantar keratoderma, as well as nail changes. Germany and Italy. In our case, there was no history of The development of squamous cell carcinoma in the scleroatrophic area is the most dreaded complication of this syndrome.

Huriez syndrome also referred to as “sclerotylosis,” is an autosomal dominant genodermatosis, characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma (PPK), and hypoplastic nail changes. It was first described in two large pedigrees from northern France.[1] The development of aggressive squamous cell carcinoma (SCC) of the affected skin is a distinctive feature of the syndrome, occurring in around 15% of affected individuals. SCC in Huriez syndrome is characterized by its early onset and metastasis.[2] The pathogenetic mechanism of tumorigenesis in Huriez syndrome is unknown. We report Figure 1: Nodular lesion here the first case of Huriez syndrome from India.

A 27 year-old male presented with a raised nodular lesion on the left middle finger that had been prevalent since four months [Figure 1]. The lesion started as a small, warty papule and gradually increased in size. The patient had a similar lesion on the left thumb a year ago, which was excised and diagnosed as a squamous cell carcinoma. The left thumb had been amputated, the draining nodes removed, and chemotherapy given for six months. The patient had a history of dryness with pigmentation and recurrent fissuring of the palmar skin since his birth. He was a software engineer and had no exposure to chemicals or drugs that could cause sclerosis of the skin. There were no similar complaints in any of the family members. Figure 2: Palms showing scleroatrophy

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