61. A 34-year-old African-American woman comes to your clinic for evaluation of dark spots on her face.
These dark patches have been appearing over the past 2 or 3 months. She denies having any itching or other symptoms in this area. She has no history of similar skin lesions in the past. The patient has just delivered a healthy baby girl by cesarean section. She has no significant medical history; her only med-ication is a multivitamin. Physical examination shows hyperpigmented patches in the malar region bilaterally. The rest of her skin examination is normal.
What is the most likely diagnosis, and how would you treat this patient?
❑ A. Lentigines; start hydroquinone
❑ B. Melasma; start a sunscreen and hydroquinone
❑ C. Postinflammatory hyperpigmentation; start azelaic acid
❑ D. Vitiligo; start topical corticosteroids
Key Concept/Objective: To know the clinical picture and treatment of melasma
Melasma is a common acquired symmetrical hypermelanosis characterized by irregular light-brown to gray-brown macules involving the face. Melasma is commonly observed in females; men constitute only 10% of the cases. It occurs more commonly in geographic regions that receive intense ultraviolet radiation, such as tropical or subtropical regions.
Clinically, the light-brown patches are commonly evident on the malar prominences, fore-head, chin, nose, and upper lip. The patches may have a centrofacial or mandibular dis-tribution. Current treatments for melasma include broad-spectrum sunscreens, hydro-quinone formulations, azelaic acid, kojic acid, α-hydroxy acid products, retinoic acid, retinol, superficial chemical peels, and microdermabrasion. Although all these therapies improve melasma, none are curative. It is essential for patients to adhere to a regimen of daily sun protection. A lentigo is a well-circumscribed, brown-black macule that appears at birth or early childhood. Postinflammatory hyperpigmentation is characterized by an acquired increase in cutaneous pigmentation secondary to an inflammatory process; there is no such history in this patient. Vitiligo is a common skin disorder characterized by one or more patches of depigmented skin. (Answer: B—Melasma; start a sunscreen and hydroquinone)
62. A 16-year-old white male comes to your clinic for evaluation of skin pigmentation. For the past 6 weeks, he has been experiencing progressive dark pigmentation in both arms. He denies having had such an ill-ness in the past. The patient has acne, which was first diagnosed 2 years ago. His acne affects his face and upper back. He says he is not taking any medications except for an “acne pill.” Physical examina-tion is remarkable for the presence of comedones and pustules on his face and upper back. The patient also has hyperpigmented skin in both arms. No other skin lesions are present; the rest of the examina-tion is normal.
Which of the following is the most likely diagnosis for this patient?
❑ A. Postinflammatory hyperpigmentation
❑ B. Addison disease
❑ C. Erythema dyschromicum perstans
❑ D. Drug-induced hyperpigmentation
Key Concept/Objective: To recognize hyperpigmentation as a possible side effect of different medications
Medications are a common cause of cutaneous hyperpigmentation. Lesions may be local-ized or generallocal-ized. Medications can also cause hyperpigmentation of the oral mucosa and
nails. Medications causing drug-induced hyperpigmentation include oral contraceptives, hormone replacement therapies, antibiotics, antidepressants, antiviral agents, antimalari-als, antihypertensives, and chemotherapeutic agents. This patient has acne, for which he is taking medication. This medication could be minocycline or tetracycline—antibiotics that are commonly used for treatment of acne and that can cause hyperpigmentation. This makes drug-induced hyperpigmentation the most likely etiology. Postinflammatory hy-perpigmentation can be a sequela of several dermatologic conditions, including acne;
however, the hyperpigmentation in this patient is not located where the acne lesions are.
Addison disease can cause hyperpigmentation on the skin and mucosal surfaces; however, this patient has no other signs and symptoms of this disorder. Erythema dyschromicum perstans is an acquired benign condition characterized by the presence of slate-gray to vio-laceous macules. The lesions are usually symmetrically distributed and vary in size from small macules to very large patches. Common sites of involvement include the face, neck, trunk, and upper extremities. This patient’s clinical picture is not consistent with this dis-order. (Answer: D—Drug-induced hyperpigmentation)
63. A 40-year-old African-American woman with a history of hypertension comes to your clinic for a follow-up visit. She is in her usual state of health. Her only medication is hydrochlorothiazide. Physical exam-ination reveals an area of hypopigmented skin measuring 5 × 7 cm on her right foot.
Which of the following is the most likely diagnosis for this patient, and what further workup is indicated?
❑ A. Albinism; skin biopsy
❑ B. Vitiligo; no further workup is indicated
❑ C. Vitiligo; complete blood count, sedimentation rate, comprehensive metabolic panel, and autoantibody tests
❑ D. Idiopathic guttate hypomelanosis; skin biopsy
Key Concept/Objective: To know the clinical picture and appropriate work-up of vitiligo
Vitiligo is a common acquired, idiopathic skin disorder characterized by one or more patches of depigmented skin caused by loss of cutaneous melanocytes. Onset may begin at any age, but peak incidences occur in the second or third decade of life. There is no racial predilection; females are affected more often than males. Vitiliginous lesions are typically asymptomatic depigmented macules without signs of inflammation. Occasionally, they may show signs of inflammation or pruritus. Areas of depigmentation vary in size from a few millimeters to many centimeters. In view of the association of vitiligo with myriad other autoimmune diseases, the routine evaluation of a patient should include a thorough history and physical examination. Recommended laboratory tests include a complete blood count, sedimentation rate, comprehensive metabolic panel, and autoantibody tests (antinuclear antibody, thyroid peroxidase, and parietal cell antibodies). Albinism is an uncommon congenital disorder characterized by hypopigmentation of the hair, eyes, and skin. Idiopathic guttate hypomelanosis is a common asymptomatic disorder characterized by hypopigmentation and depigmented polygonal macules ranging from approximately 2 to 8 mm in diameter. (Answer: C—Vitiligo; complete blood count, sedimentation rate, comprehen-sive metabolic panel, and autoantibody tests)
64. A 1-year-old boy is being evaluated for recurrent pneumonia. His history includes three episodes of pneu-monia and one episode of skin infection. His family history is unremarkable. Physical examination shows ocular hypopigmentation; there are also two areas of skin hypopigmentation, one on his face and one on his left arm. His peripheral blood smear is remarkable for the presence of giant cytoplasmic gran-ules in the neutrophils.
Which of the following is the most likely diagnosis for this patient?
❑ A. Chédiak-Higashi syndrome
❑ B. Prader-Willi syndrome
❑ C. Hermansky-Pudlak syndrome
❑ D. Cross-McKusick-Breen syndrome
Key Concept/Objective: To know the classic features of Chédiak-Higashi syndrome
Chédiak-Higashi syndrome is characterized by recurrent infections, peripheral neuropa-thy, and oculocutaneous hypopigmentation. This disorder leads to death at an early age as a result of lymphoreticular malignancies or infections. The presence of giant lysomal gran-ules in the neutrophils is characteristic of Chédiak-Higashi syndrome. Prader-Willi syn-drome is a developmental synsyn-drome characterized initially by mental retardation, neona-tal hypotonia, and poor feeding, followed by hyperphagia and obesity. Patients have ocu-lar abnormalities and skin and hair hypopigmentation consistent with oculocutaneous albinism. Hermansky-Pudlak syndrome presents as a hemorrhagic diathesis. Skin and hair color varies from white to light brown. Freckles and lentigines develop with age. Cross-McKusick-Breen syndrome is characterized by hypopigmentation, microphthalmia, nys-tagmus, and severe mental and physical retardation. (Answer: A—Chédiak-Higashi syndrome)
65. A 22-year-old woman requests birth control pills. She has just moved to the United States from Poland with her new husband. She has no history of illness or current illness and has not seen a doctor in a long time. On examination, multiple flat, brown, uniformly pigmented 1 to 3 cm macules, as well as several fleshy, almost pedunculated, nodules are seen on her left leg, hip, and buttock. These lesions stop abrupt-ly at midline on her back. None of these lesions are seen elsewhere on her body. She recalls having these all her life.
Which of the following steps will be useful in the management of this patient’s skin lesions?
❑ A. No further interventions are required
❑ B. Referral for genetic counseling
❑ C. Ophthalmologic screening
❑ D. Diagnostic skin biopsy
❑ E. Topical steroid therapy
Key Concept/Objective: To recognize segmental neurofibromas and café au lait spots as the result of a focal mutation (type 5 neurofibromatosis) that is not associated with systemic or heri-table disease
Type 5 neurofibromatosis manifests as skin lesions in a focal dermatomal segment caused by a localized mutation occurring during embryonic development. It does not carry the risk of the CNS tumors, cortical cataracts, or multiorgan system involvement seen with other types of neurofibromatosis. Additionally, focal dermatomal mutations do not affect the germline cells and are therefore not heritable, in contrast to the autosomal dominant pattern of inheritance of the other neurofibromatosis disorders. Therefore, there is no need for genetic counseling. Although ophthalmologic screening can confirm neurofibromato-sis type 1 by finding Lisch nodules (iris hamartomas), this screening is not necessary in patients with type 5 neurofibromatosis because there is no associated eye disorder.
Diagnosis of type 5 neurofibromatosis is made by inspection of the skin lesions, and no biopsy is required. Topical steroids have no effect on café au lait spots or neurofibromas.
(Answer: A—No further interventions are required)
66. A 5-year-old girl is brought to the office by her mother after a fall that caused a forehead laceration. The fall was unwitnessed and occurred during the care of a babysitter. The child has been in good health, though she has been slower than other children her age in reaching the usual milestones in cognitive development. On examination, the patient is a fair-skinned, dark-haired child with a streak of gray hair on the left scalp. She has a 2 cm laceration on her forehead, with considerable associated swelling.
Several papules are apparent on her face. A Wood lamp examination reveals four pale, elongated mac-ules on her trunk.
Which disorder best accounts for the findings in this case?
❑ A. Neurofibromatosis
❑ B. Pityriasis alba
❑ C. Vitiligo
❑ D. Piebaldism
❑ E. Tuberous sclerosis
Key Concept/Objective: To be able to recognize tuberous sclerosis by a finding of hypopigmented macules in the setting of likely mental retardation, seizures, and facial angiofibromas
Tuberous sclerosis presents in infants and young children with a classic triad of hypopig-mented, ash-leaf-shaped macules (including those in the scalp, which cause gray streaks of hair), mental retardation, and seizures, though the last two can be absent. This child’s unwitnessed fall could have been a seizure, and her slowness to attain developmental mile-stones may be a sign of mental retardation. The finding of facial neurofibromas, skin-col-ored-to-red papules, is pathognomonic. In contrast, skin findings in neurofibromatosis include hyperpigmented, not hypopigmented, macules, as well as nodular neurofibromas in distributions other than the face. Pityriasis alba affects young children, usually those with dark skin. The lesions are usually on the face and may begin with subtle erythema and slightly raised borders. The lesions then become scaly, hypopigmented macules with indistinct borders and regress spontaneously after several months. Vitiligo causes depig-mentation of skin and hair that develops in older children and young adults, usually those of darker skin color. Associated conditions include autoimmune endocrine disorders but not seizures or retardation. Piebaldism causes a white forelock in 90% of patients, as well as amelanotic macules on the trunk, extremities, and mucous membranes. These are pres-ent at birth and remain stable over time, unlike vitiligo, which develops later in life and is often progressive. (Answer: E—Tuberous sclerosis)
67. A 24-year-old Hispanic woman has been using oral contraceptives and was treated with ciprofloxacin for a bladder infection several months ago. She presents with concerns about some spots on her face that she would like to have removed. The spots appeared suddenly over the past few weeks. They are not itchy or painful. On examination, the patient has blotchy, hyperpigmented, brown macules over the central face, without scaling or induration, involving the nose, nasolabial folds, upper lip, cheeks, and forehead. There are no lesions on the oral mucosa and no rashes elsewhere on her body.
What is the most likely cause of this patient’s hyperpigmented lesions?
❑ A. Melasma
❑ B. Tinea faciei
❑ C. Lichen planus
❑ D. Lupus erythematosus
❑ E. Drug-induced sun sensitivity
Key Concept/Objective: To recognize melasma in patients with risk factors and characteristic skin findings
Melasma causes hyperpigmented macules in the central areas of the face. Risk factors for melasma include dark skin, female gender, oral contraceptive use, pregnancy, and sun exposure. Tinea faciei can cause hyperpigmented lesions on the face, but these are usually scaly, with annular accentuation of hyperpigmentation and central clearing. Lichen planus is usually quite itchy and usually occurs in locations such as the wrists, back, shins, and buccal mucosa, but it can also involve the eyelids, tongue, lips, or scalp. Lichen planus is usually more violaceous in color and contains fine, parallel, lacy white lines called Wickham striae. Lupus can cause a malar rash, which is usually erythematous rather than brown and usually confluent rather than blotchy, with some associated fine scaling. Like melasma, this classic malar rash can worsen with sun exposure, but it spares the nasolabi-al folds. Drug-induced sun sensitivity should nasolabi-also spare the nasolabinasolabi-al folds and upper lip because these areas receive less sun exposure than do other areas of the face. (Answer: A—
Melasma)
For more information, see Grimes PE: 2 Dermatology: XV Disorders of Pigmentation. ACP Medicine Online (www.acpmedicine.com). Dale DC, Federman DD, Eds. WebMD Inc., New York, February 2003