Dermatology Online Journal

Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism
Emily Berger MD, Raegan Hunt MD PhD, Julia Tzu MD, Rishi Patel MD, Miguel Sanchez MD
Dermatology Online Journal 17 (10): 22

Department of Dermatology, New York University, New York, New York

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Abstract

A 36-year-old African man from Guinea with a history of albinism presented with a many-year history of scaling and erythema of the face, neck, and arms. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the posterior aspect of the lower leg showed a squamous-cell carcinoma in situ. The most common types of oculocutaneous albinism (OCA), OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair, eyes, and ears. Photodamage and skin cancers plague patients with albinism. In Africa, where albinism is prevalent, albinos face a myriad of social and medical issues. Skin cancer surveillance is an important consideration for albinos, and sun protection is paramount.

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History

A 36-year-old African man from Guinea with a history of albinism presented to the Dermatology Clinic at Bellevue Hospital Center with scaling and erythema of the face, neck, and arms. At the time of presentation, the patient had no specific lesions of concern. He experienced many blistering sunburns as a child. There was no personal or family history of skin cancer or albinism. A skin biopsy specimen was obtained from the right lower leg.

Physical examination

Figure 1	Figure 2

The patient had light eyes with nystagmus, blonde hair, and cream-colored skin. Located on the face, neck, upper portion of the chest, upper portion of the back, and dorsal aspects of the arms were numerous, erythematous macules and papules. The skin of the neck demonstrated deep, geometric furrows. On the upper portion of the chest and back were a few, dark-brown, dendritic macules. On the posterior aspect of the right lower leg there was an indurated, scaly, pink plaque.

Laboratory data

None.

Histopathology

Figure 3

There is partial-to-full-thickness epidermal keratinocytic atypia, which is associated with orthokeratosis and parakeratosis.

Discussion

Oculocutaneous albinism (OCA) encompasses a group of genodermatoses that are characterized by defects in melanin synthesis that affect the skin, eyes, ears, and hair to varying degrees. The most common forms, OCA 1 and OCA 2, are transmitted in an autosomal recessive manner [1]. In OCA 1, tyrosinase mutations on chromosome 11 affect melanin production, and in OCA 2, mutations in the P protein on chromosome 15 affect melanosome transport and pH regulation to produce a similar, although milder, phenotype as compared with OCA 1 [1, 2].

There are two forms of OCA 1. Oculocutaneous albinism 1 type 1A has complete absence of tyrosine activity. These individuals have pink skin, white hair, and blue-grey eyes. There are foveal hypoplasia, miswiring of optic fibers, and transillumination defects that result in poor visual acuity, photophobia, nystagmus, and strabismus [3]. In OCA 1 type 1B there is some residual tyrosine activity. These patients may develop lightly colored hair, pigmented nevi, and freckles [1, 2].

Oculocutaneous albinism 2 is the most common form of albinism. Patients with OCA 2 have cream-colored skin and pigmented hair, typically from birth. As in patients with OCA type IB, patients with OCA 2 may develop freckles and pigmented nevi [1, 2]. In patients with tyrosinase-positive albinism, so-called dendritic freckles, which are characterized by an irregularly-branched shape and brown color are present [4]. Although visual acuity is impaired in individuals with OCA 2, photophobia and nystagmus typically are less severe than they are in OCA 1. Among the many mutations in chromosome 15 that result in OCA 2, a large deletion is the most common. Deletions in the same chromosome also occur in Prader-Willi and Angelman syndromes; patients with these syndromes may have some features of albinism, which includes hypopigmentation [5].

The social implications of albinism are prominent for African patients. In African countries, social discrimination against albinos may be the result of inadequate education as well as of superstition. False beliefs have resulted not only in social ostracism of albinos but also in their persecution and in violence against them [6, 7].

Albinism is becoming an important public health issue, especially in Africa, where OCA 2 is particularly prevalent. In Africa, the prevalence of albinism may range from 1/15,000 to as high as 1/1,000 [6, 7]. Sun protection is inadequate in African albinos, which has serious consequences in this population [8]. As a result of their deficiency in melanin, albino patients are exquisitely sensitive to ultraviolet radiation. They develop thick skin, solar keratoses, and skin cancer. Several series have documented nearly 100 percent incidence of actinic keratoses in albinos [1]. Reports suggest that non-melanoma skin cancer, particularly squamous-cell carcinoma, may be aggressive in this population. Non-melanoma skin cancer is more prevalent than is melanoma in albinos. However, cases of melanoma have been reported in individuals with OCA 1 and OCA 2 [1]. Polymorphisms in both the tyrosinase gene and the P protein gene have been associated with the development of skin cancers, which include basal-cell carcinoma and melanoma in the in the absence of albinism and may help account for pigmentation differences among patients in the general population [9]. As a result of their increased risk of malignant conditions, total body skin examination is recommended for these patients at least twice yearly for skin cancer surveillance. Careful treatment of actinic damage is imperative. Sun protection and a combination of treatment modalities, which include cryotherapy and topical chemotherapy, are employed [1, 2, 8]. In addition to skin monitoring, ophthalmologic surveillance also is recommended [3].

References

1. Okulicz JF, et al. Oculocutaneous albinism. J Eur Acad Dermatol Venereol 2003;17:251 [PubMed]

2. Orlow S. Oculocutaneous Albinism Type 1 and Oculocutaneous Albinism Type 2. Disorders of Pigmentation. In: Spitz JL, ed. Genodermatoses: A Clinical Guide to Genetic Skin Disorders. Lippincott Williams and Wilkins: New York. 2005: 56 [UI:]

3. Summers CG. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci 2009;86:659 [PubMed]

4. Bothwell JE. Pigmented skin lesions in tyrosinase-positive oculocutaneous albinos: a study in black South Africans. Int J Dermatol 1997;36:831 [PubMed]

5. Brilliant MH, et al. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res 1994; 7:398 [PubMed]

6. Hong ES, et al. Albinism in Africa as a public health issue. BMC Health 2006;6:212 [PubMed]

7. Chang J. Africans with albinism hunted: limbs sold on Tanzania’s black market. ABC News. Accessed March 15, 2011 [UI:]

8. Lund PM, Taylor JS. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa. BMC Public Health 2008; 8:225 [PubMed]

9. Scherer D, Kumar R. Genetics of pigmentation in skin cancer – a review. Mutat Res 2010;705:141 [PubMed]

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