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Case presentation : 

Case presentation by Isabel Ragacha Felix Katana

KR : 

KR 1 year 6 months old male Weighing 7.94kgs Admitted on Monday 12th April 2010 Discharged on Monday 19th April 2010

HPI : 

HPI Came in with a 3 day history of fever and bulluos skin lesions which had been there on and off and were treated with oral medication without improvement.


PMHX First admission. Fully immunized. Was born at home no problems perinatally.

General examination : 

General examination The child was stable with Lighter-than-normal skin and hair, Not pale, no cyanosis, no lymphadenopathy, no dehydration, no oral candidiasis. Vitals: T 37.4oc, P 160 b/m, R 28 B/m, S 100%

Local exam : 

Local exam Generalized Vesico-bullous skin lesions in various stages and multiple hyper pigmented lesions with pustules.

Systemic examination : 

Systemic examination Respiratory system had no indrawing, no deep breathing, and the chest is clear. C.V.S : Warm extremities, normal pulse volume, heart sounds were normal. P.A : Not distended, not tender, no organomegally bowel sounds present. C.N.S. A.V.P.U, neck soft, B.C.S. of 5 (v2, m2, e1)

DX : 

Bullous impetigo Albinism DX

Ix : 

Ix FHG, wbc 15.6, Hb 9.2, mcv 68, plt 615 Blood slide for mps – neg U $ E’s: Na+ 136, k+ 4.4, blood glucose 4.5 Blood cultures Pus swab for culture

management : 

management Vitamin A I.V Gentamycin for seven days I.V Cloxacillin for seven days

Day 1 : 

Day 1 Albinism, wide spread lesions all over the body with various hyperpigmented areas some vesicles/bullae are drying up. Plan to ct mx

Day 2 : 

Day 2 Bullous impetigo, No fevers lesions drying up Plan ct mx

Day 3 : 

Day 3 Pus swab – staphylococcus aureus sensitive to CAF, cipro, clindamycin, erythromycin, gentamycin and methicillin. Resistant to tetracycline, vancomycin and cotrimoxazole. Vesicles/bullae drying up.

Day 4 : 

Day 4 Blood culture - staphylococcus aureus sensitive to CAF, cipro, clindamycin, erythromycin, gentamycin vancomycin, cotrimoxazole, methicillin. Resistant to tetracycline and penicillin. Lesions healing well

Day 5, 6, 7. : 

Day 5, 6, 7. Lesions dry Is to finish 7 days of iv antibiotics Discharged after seven days of admission on oral cloxacillin for another week.

Albinism : 

Albinism Definition A congenital disorder characterized by the complete or partial absence of a pigment in the skin, hair and eyes due to absence or defect of an enzyme (tyrosinase) involved in the production of melanin. Background Albinism remits from inheritance of recessive alleles and is known to affect all vertebrae including humans. Prevalence Its estimated that 1 out of 40,000 population has oculocutaneous albinism, and 1:50,000 for ocular albinism

Layers of the skin : 

Layers of the skin

Classification : 

Classification There are two main categories of albinism in humans: Oculocutaneous albinism Lack of pigment in the eyes, skin and hair. It’s the most severe form of albinism People with this type of albinism have white or pink hair, skin and iris colour as well as visual problems Types 1-4 based on different levels of pigmentation.

Slide 19: 

Ocular Albinism Refers to lack eye pigmentation. It is X linked. People who have ocular albinism have generally normal skin and hair colour.

Medical conditions in which albinism is part of presentation : 

Medical conditions in which albinism is part of presentation Hermansky-Pudlak syndrome, A rare genetic disorder characterized by various degrees of albinism, bleeding due to platelet defect and accumulation of waxy substance in cells b) Chediak-Higashi syndrome Lack of colouring all over the skin but not complete. Tuberous sclerosis Small areas without skin colouring Waardenburg syndrome A lock of hair that grows on the forehead with no colouring in one or both irises.

Symptoms : 

Symptoms Pale skin White hair Blue eyes Nystagmus Photophobia Near sightedness Impaired vision Sun sensitive skin

Diagnosis : 

Diagnosis Genetic testing Clinical presentation Electroretinogram

Management : 

Management The goal of treatment is to relieve symptoms, it involves protecting the skin and eyes from the sun:- Avoiding the sun by using sun screen and covering up completely. Sun glasses Vision aids lenses prescribed to correct visual problems Surgery on ocular muscles to reduce nystagmus, strabismus and common refractive errors like astigmatism .

In Conclusion; : 

In Conclusion; People with albinism are generally healthy just as the rest of the population, with growth and development occurring as normal, and albinism by itself does not cause mortality though the lack of pigment increases the risk of skin cancer and other problems.