Clinical Pearls : Disorders Of Pigmentation

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OCA 1

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Skin and hair do not improve with age Vision remains stable or worsens with age most certain to get squamous cell cancer, just a matter of when ... Some may need to be placed in special classes for the visually impaired ... Referral to NOAH support group (see Support Groups).

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OCA 2

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Skin More difficult problem for darker races with increased social ostracism (less than with vitiligo, however) ... Referral to NOAH support group (see Support Groups).Eyes Most difficult problem for caucasians but can be equally bad for blacks depending on the level of nystagmus and severity of albinism.

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Hermansky Pudlak

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Must first establish patient is a tyrosinase positive albino ... Elicit country of origin; remember large Puerto Rican population in the northeast United States ... Never give aspirin ... Dental surgery and minor surgery may need to be done in hospital setting with platelets available ... Approximately 33% of patients will develop symptomatic pulmonary fibrosis.

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Chediak Higashi

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Bone marrow transplant is the treatment of choice and should be performed early on before the accelerated phase takes place ... Lymphoma like phase responds poorl% to chemotherapy ... Platelet storage pool defect less severe than in HermanskyPudlak ... Death usually by 10 years of age.

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Griscelli

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Patients with Griscelli syndrome caused by mutations in the MY05A gene develop primary neurologic impairment (e.g., severe developmental delay) but not hemophagocytic syndrome (a phenotype similar to dilute mice] whereas those with RAB27A mutations develop a hemophagocytic syndrome and any neurologic involvement is secondary, i.e., caused by lymphocytic infiltration of the central nervous system (CNS), which is a phenotype similar to ashen mice.

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Piebaldism

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Melanocyte transplant technology not perfected yet ... Coping mechanisms seem to be better for patients with a congenital skin defect (piebaldism) rather than an acquired skin defect (vitiligo).

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Waardenburg

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Most important, all patients must see audiologist early on to impact upon learning and phonation in the congenitally deaf ... Benefit from hearing aids ... Colored contacts useful for heterochromia irides ... Watch for gastrointestinal symptomatology in newborn/infant ... Elicit bowel habit history ... Dermablend, hair dyes useful.

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Hypomelanosis of Ito

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Hypopigmentation is not a static finding ... I have seen patients revert to normal pigmentation ... Nevus depigmentosus, hypornelanosis of Ito, and linear and whorled nevoid hypermelanosis represent a spectrum of phenotype related to various mosaic genotypes

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Incontinentia Pigmenti

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Dentist can provide dentures, prosthodontics for correction of dysfunctional teeth ... Refer to ophthalmologist to fix strabismus, cataracts, and retrolentalfibroplasia like ocular disease ... I let the clinical exam dictate my work up of other systems ... Genetic counseling extremely important ... Affected women may have a very difficult time conceiving and an increased rate of miscarriages ... Always examine Mom.

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LEOPARD

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Patients with multiple lentigines should always be sent for cardiac evaluation if this diagnosis is being considered ... It is often difficult to assess genitalia abnormalities and sensorineural deafness accurately during infancy/early childhood ... Once diagnosis is made, it is critical to evaluate for deafness in order to prevent difficulties with phonation and learning ... Skin biopsy may be necessary to help differentiate lentigines from nevi and ephelicles

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Carney

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Lentigines and ephelides usually begin after birth and increase in number with age ... Nevi are often congenital ... Adults are more likely to have cutaneous and cardiac myxomas or endocrine disease ... Atrial myxomas must be excised ... Adrenal and pituitary function tests should be done once the diagnosis is made.

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Mc-Cune Albright

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I would investigate radiologically the bone corresponding to the site of the segmental caf6 au lait macule ... Bone fractures are the most common orthopedic problem ... Referral to orthopedist and endocrinologist once the diagnosis is confirmed.

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NF 1

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It is important that children with cafe au lait spots have an annual opththalmologic examination for the first 5 to 6 years then every 2 to 3 years. I do not routinely obtain a baseline MRI, but offer tha t option to parents . . . Always evaluate other family members for the presence of cutaneous lesions to consider if a sporadic mutation or if a parent is affected, even with a mosaic form. This information is important in
counseling about the risk for future siblings. Ophthalmologic examinations may be helpful if the diagnosis is equivocal... Always check blood pressure; if elevated in child, consider renal artery stenosis; if elevated in adult, consider pheochromocytoma... Precocious puberty may suggest CNS tumor. Multiple juvenile xanthogranuloma OXG) may be associated with nonlymphocytic leukemia in a child with caf6 au lait spots. If these xanthogranulomas are present, obtain a CBC, but recognize that the likelihood of finding evidence of leukemia is small. It is important to follow a child with serial head circumference measurements because of the risk of hydrocephalus and the frequency of macrocephaly without hydrocephalus. Always palpate the skin carefully, especially under large cafe au lait spots, because they may overlie a plexiform neurofibroma... Refer to NF support group.

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NF II

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Patients must never swim alone and must avoid going under water . . . Surgical intervention may add to morbidity ... Normal intelligence ... Offspring of affected individuals should have an ophthalmologic examination at birth because cataracts may be present very early on.

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Tuberous Sclerosis

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Angiofibromas can be a tremendous cosmetic problem for patients ... Remember, 0.2% to 0.3% of normal neonates have hypopigmented macules ... Rhabdomyomas are common in infancy and regress spontaneously with age... Echocardiagram is nice test to do in infancy if diagnosis is equivocal... Approximately 40% of patients have normal intelligence... I prefer MRI to CT scan of the brain given lack of radiation and increased sensitivity; ultrasound through the fontanelle may be performed in neonates and young infants.