Multiples in Dermatology: Markers for Special Considerations in Diagnosis, Therapy, and Prognosis
July 2012 | Volume 11 | Issue 7 | Original Article | 812 | Copyright © 2012
Multiples of certain cutaneous lesions should alert the clinician to a wider differential diagnosis and possible systemic associations
although the individual skin lesion is often benign in nature and banal in appearance.
This article focuses on such findings in selected multiple cutaneous lesions that may be classified according to the primary cutaneous feature as vascular, pigmentary, nevoid hamartomas, and tumors/neoplastic conditions. The clinical presentation of each entity and its significance, appropriate diagnostic evaluation, therapeutic and prognostic considerations and pertinent differential diagnoses will be reviewed.
J Drugs Dermatol. 2012;11(7):812-817.
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When a clinician is confronted with a patient with multiple cutaneous lesions of the same type, the possibility of extracutaneous involvement and genetic/ syndromic associations must often be investigated. This review article addresses the cutaneous features of clinical entities with multiple “copies” of vascular and pigmentary lesions and the attendant clinic considerations, diagnostic evaluation, and therapeutic options in these settings.
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber- Rendu syndrome is an autosomal dominant vascular disorder, with a prevalence 1:5000.1 In addition to the cutaneous hallmark of multiple, particularly mucocutaneous telangiectasias, the condition has multiple extracutaneous manifestations such as epistaxis and visceral arteriovenous malformations (pulmonary, cerebral, hepatic). The three most common gene mutations associated with HHT are in endoglin, ACLVR-1/ALK- 1 and SMAD4 and depending on the mutation, patients may present primarily with pulmonary A-V fistulas, hepatic arteriovenous malformations (AVM), or juvenile polyposis.2,3,4 A positive family history is helpful for diagnosis.
Recurrent and spontaneous epistaxis is usually the first symptom of HHT, with the average age of onset around 12 years of age and full penetrance by age 40. Telangiectasias are most commonly found on the lips, tongue, buccal mucosa, fingers, and subungually, but may occur anywhere and continue to evolve. Prognosis depends on visceral, namely cerebral (23% of cases), pulmonary, and hepatic/GI tract involvement.4 The telangiectasias in HHT need to be distinguished from common telangiectasias and spider angiomas seen particularly on the face and wrist of children. These children do not present with extracutaneous findings.
Management of HHT depends on the subtype and may include screening colonoscopy, referral to ENT for epistaxis, pulse dye laser for cutaneous lesions and screening MRI and transthoracic contrast echocardiography to screen for cerebral and pulmonary involvement, respectively. Hepatic AVM's can be diagnosed with ultrasound or CT. Positive findings on screening should generally result in referral to a neurovascular center. If initial screening test is negative in a high-risk patient, repeat screening after puberty, before pregnancy, or every 5-10 years. Patients with hepatic VM and intractable heart failure, portal hypertension, or ischemic biliary necrosis may require hepatic transplantation.4
Ataxia telangiectasia (AT) is an autosomal recessive neurodegenerative disorder involving multiple organ systems. AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiency, ionizing radiation sensitivity, and lymphoid neoplasms. AT occurs in approximately 1:30,000 live births. Approximately 1% of the Caucasian population is a heterozygote carrier for the AT gene.5 AT is caused by a mutation in the AT mutated gene (ATM gene). ATM is important in cell cycle progression and the detection of DNA damage.6
Ataxia as the first symptom usually presents after 12 months of age when the child begins to walk. Children have difficulty with posture and tend to wobble or fall to one side.5 They are unable to control gross and fine motor skills and develop muscle wast-