Oculo-cutaneous Albinism and Xeroderma Pigmentosum

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These are recessive inherited oculo-cutaneous conditions. 

Albinism

characterized by the complete or partial absence of pigment (melanin) in the skin, hair and  eyes. 

Clinical presentation 

  • Eye problems-photophobia, nystagmus, impaired vision
  • Loss of pigment on skin and hair
  • Freckles

Xeroderma Pigmentosum 

Genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet light. 

Clinical presentation

  • Freckling in sun exposed areas
  • Dry skin

Non-pharmacological Treatment 

  • Counseling of parents that are genetic diseases
  • People  with  Xeroderma  pigmentosum  should  avoid  sunlight  as  much  as possible.
  • Patients  are  strongly  advised  to  wear  sun  protective  clothing  (long  sleeved  shirt, blouse, skirt and trousers and wide brimmed hats to prevent skin cancers)
  • Sun protective glasses with special ultraviolet B (UVB) filters
  • Advice on indoor income generating activities
  • Cryotherapy of early lesions

Pharmacological Treatment 

C: Sunscreen applications of SPF 30+ or above, applied twice a day at 8am and noon 

AND 

S: 5 Fluoro-uracil topical application of early lesions 

Surgical treatment 

  • Excision of lesions
  • Refer to oncologist in extensive involvements

Note:  

  • Sunscreen  lotions  and  creams  contain  physical  and  chemical  products  that  absorb  or  scatter  ultraviolet rays that would otherwise cause damage to skin. 
  • Uses of sunscreen; 
  • Albinism and xeroderma pigmentosum to prevent sunburn, and reduce risk of squamous cell carcinoma, B cell carcinoma and melanoma.
  • Skin  conditions  e.g.  Lupus  Erythematosus,  dermatomyositis  whereby  ultraviolet  light exacerbates these conditions
  • Normal use to prevent photoaging of the skin