Asymptomatic progressive symmetric telangiectatic patches of the extremities.

A 30-year-old man with no significant medical history presented for evaluation of progressive discoloration of his bilateral legs, initially developing 12 years prior and recently spreading to involve the arms. There was no family history of similar lesions. Physical examination found symmetric, blanchable telangiectatic patches of the bilateral proximal lower extremities and milder involvement of the distal upper extremities (Fig 1). A dermoscopic image was obtained (Fig 2). Shave biopsy was sent for routine pathology (Fig 3).

Fig 1

Fig 2

Fig 3

Question 1: What is the most likely diagnosis?

Hereditary hemorrhagic telangiectasia (HHT)

Poikilodermatous mycosis fungoides (MF)

CREST syndrome

Generalized essential telangiectasia (GET)

Cutaneous collagenous vasculopathy

Answers:

HHT – Incorrect. HHT is an autosomal dominantly inherited syndrome. It is characterized by both cutaneous telangiectasias and systemic arteriovenous malformations. Classically, it presents with recurrent, severe epistaxis in children. Diagnosis is made based on genetic testing in suspected cases and clinical criteria.

Poikilodermatous MF – Incorrect. The poikilodermatous variant of MF is a rare variant of cutaneous T-cell lymphoma. An atypical T-cell dermal infiltrate would be seen on histology. An abnormal CD4:CD8 ratio would be expected.

CREST syndrome – Incorrect. CREST syndrome, (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) is a connective tissue disease best viewed as limited scleroderma. The patient does show telangiectasia but has no systemic symptoms suggestive of multisystem connective tissue disease.

GET – Correct. GET is a diagnosis of exclusion usually characterized by the appearance of asymptomatic telangiectasia initially on the lower extremities. Lesions are persistent and progressive and spread proximally to the trunk and arms with time. Women in their 30s and 40s are more commonly affected than men. Once other diseases such as HHT, MF and connective tissue disease are ruled out, cutaneous collagenous vasculopathy is the main item on the differential diagnosis and is clinically indistinguishable from GET. The former is discussed further in question 3.

Cutaneous collagenous vasculopathy – Incorrect. Cutaneous collagenous vasculopathy would have this clinical presentation; however, the histology is distinctive. See further discussion in question 3.

Question 2. What is the recommended next step in treating this condition?

Obtain complete blood count with differential including peripheral smear and flow cytometry

Order erythrocyte sedimentation rate, C-reactive protein, antinuclear antibody, perinuclear antineutrophil cytoplasmic antibodies (ANCA), and cytoplasmic ANCA

Treatment with superpotent topical corticosteroids

Fractionated carbon dioxide (CO2) laser therapy

Reassurance

Answers:

Obtain complete blood count with differential including peripheral smear and flow cytometry – Incorrect. This would be appropriate if histology findings were suggestive of mycosis fungoides. No additional laboratory work is necessary in GET.

Order erythrocyte sedimentation rate, C-reactive protein, antinuclear antibody, perinuclear antineutrophil cytoplasmic antibodies (ANCA), and cytoplasmic ANCA – Incorrect. These studies would be appropriate in certain cases of cutaneous small vessel vasculitis if systemic involvement were suspected. GET is clinically and histologically distinct from vasculitis, and the patient has no systemic symptoms.

Treatment with superpotent topical corticosteroids – Incorrect. Topical corticosteroids treat numerous dermatologic conditions, including patch stage mycosis fungoides; however, GET patients are usually asymptomatic, and topical steroids will not treat the underlying disease.

Fractionated CO2 laser therapy – Incorrect. Vascular laser therapy is found to be effective in cases of both pulsed dye laser and neodymium-doped yttrium aluminium garnet (Nd:YAG) 532-nm laser.2, 3 CO2 laser is incorrect because this type of laser is inappropriate for superficial vascular lesions. Nd:YAG and other vascular lasers can be considered for patients who desire treatment.

Reassurance – Correct. GET is a benign condition without systemic involvement. Reassurance of the benign nature and expected course is the treatment of choice.

Question 3. Which of the following is associated with this diagnosis?

Visceral arteriovenous malformations

Abnormal CD4:CD8 ratio

Dysphagia

Calcium deposition within the dermis

None of the above

Answers:

Visceral arteriovenous malformations – Incorrect. Visceral arteriovenous malformations are associated with hemorrhagic hereditary telangiectasia. Systemic arteriovenous malformations are not a feature of GET.

Abnormal CD4:CD8 ratio – Incorrect. Abnormal CD4:CD8 ratio on flow cytometry is a finding supporting the diagnosis of mycosis fungoides. No laboratory abnormalities are found associated with GET.

Dysphagia – Incorrect. Dysphagia is a symptom associated with the esophageal dysmotility seen in CREST syndrome.

Collagen within vessel walls – Incorrect. This finding is consistent with cutaneous collagenous vasculopathy, the main differential diagnosis of GET. These are only differentiated on the basis of histologic examination.

None of the above – Correct. GET is not associated with any additional symptoms or systemic disease. There are no specific findings on histologic examination, and clinicopathologic correlation is required to firmly establish the diagnosis.