Lupus pernio_0114 Derm Dx
A 48-year-old black female presents with a nodular lesion on the nose. In addition to the skin findings, she has dyspnea.
A chest radiograph shows bilateral hilar lymphadenopathy, and a skin biopsy shows non-caseating granulomas. Special stains for fungus and acid-fast bacteria are negative.
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The word “lupus” is a generic term that refers to a variety of inflammatory and infectious dermatologic diseases. Lupus pernio is a variant of sarcoidosis and is entirely unrelated to systemic lupus erythematosus, the disease most commonly associated with the word “lupus.”
Sarcoidosis is a multisystem disease of unknown etiology characterized by noncaseating granulomas. Skin lesions occur in at least one-fifth of patients and are often the initial manifestation of disease.
Cutaneous sarcoidosis has a wide variety of presentations that can commonly resemble other dermatologic pathologies. Common specific variants of cutaneous sarcoidosis include papules, plaques, subcutaneous nodules, lupus pernio and scar sarcoidosis. Erythema nodosum is the most common nonspecific cutaneous lesion of sarcoidosis, occurring in up to one fourth of cases.1-3
Papular sarcoidosis is the most common specific skin variant of sarcoidosis and commonly occurs on the face, particularly around the eyelids and nasolabial fold. Maculopapular eruptions tend to occur on the neck, trunk and extremities as well as on mucous membranes.
In contrast, plaque sarcoidosis develops on the back, buttocks, face and extensor surfaces of extremities. Papular and maculopapular manifestations are associated with favorable prognoses, whereas plaque sarcoidosis is associated with chronic disease.1-3
Lupus pernio is characterized by chronic, indurated, red to purple nodular or plaque-like skin lesions predominantly found on the nose and cheeks. Lesions can involve the upper respiratory tract and cause nasal ulceration and obstruction. This form of sarcoidosis portends a poor prognosis and is often resistant to standard therapy.1-3
Rare cutaneous morphologies of sarcoidosis include psoriasiform, annular, lichenoid, verrucous, atrophic, ulcerative, hypopigmented, angiolupoid and subcutaneous lesions, as well as sarcoidal alopecia.1-3
Patients with cutaneous sarcoidosis often have systemic involvement at the time of diagnosis or a few years after. Extracutaneous disease should be screened for, particularly in the lungs, eyes, heart and nervous system.
The lung is the most commonly affected organ in sarcoidosis, with common symptoms including dyspnea, cough, wheezing and chest pain. Pulmonary sarcoidosis is an interstitial lung disease and can lead to restrictive lung abnormalities or airway obstruction.
Ocular sarcoidosis can lead to permanent ocular damage from initial asymptomatic involvement. The most common manifestation is anterior uveitis, which can present with symptoms of blurry vision, red eye, eye pain and photophobia. Optic neuritis from ocular sarcoidosis requires immediate intervention to prevent permanent blindness.1-3
The clinical course of cardiac sarcoidosis is dependent on the extent and location of granulomatous disease in the myocardium. Associated symptoms include conduction abnormalities, congestive heart failure, arrhythmias and sudden death.1-3
Any part of the nervous system can be affected by sarcoidosis, though the most common presentation is cranial nerve involvement, particularly cranial nerve seven. Within the central nervous system, granulomatous disease preferentially affects the base of the brain.1-3
There is no single diagnostic test for sarcoidosis. Taking biopsy specimens of characteristic skin lesions and excluding other causes of granulomatous disease are often used. Infectious conditions such as tuberculosis and leprosy should be ruled out, as well as noninfectious granulomatous inflammation, including beryllium and tattoo pigments.
The classic pathologic finding of sarcoidosis is a noncaseating, or “naked,” granuloma featuring lymphocytes surrounding collections of macrophages and epithelioid cells. Other important diagnostic considerations include patient demographics and medical history, especially symptoms affecting two or more organs, and radiographic findings.1-3
Screening for extracutaneous sarcoidosis should be comprehensive and include a targeted history and physical exam, as well as diagnostic evaluations to determine involvement of various organs.
Annual posteroanterior chest radiographs and pulmonary function tests are important in identifying and evaluating pulmonary sarcoidosis. Serum chemistries, urine analysis and complete blood count screen should be performed to determine liver, renal and hematopoietic involvement.
Routine ophthalmologic examination is recommended in all sarcoidosis patients. Additional screening exams if cardiac or neurologic involvement is clinically suspected include EKG and MRI.1-3
Several syndromes with specific constellations of symptoms have been recognized as strong clinical indications of sarcoidosis. Löfgren’s syndrome, for example, describes acute onset arthralgia and arthritis, erythema nodosum, bilateral hilar lymphadenopathy and fever. Uveoparotid fever, or Heerfordt syndrome, manifests as uveitis, parotid enlargement, facial nerve palsy and fever.1-3
Treatment is not necessary in all sarcoidosis cases, as the disease can remain stable or spontaneously remit. Furthermore, drug induced complications must be weighed against the extent and effect of organ involvement.
Treatment is recommended for patients with ocular disease, progressive pulmonary disease, symptomatic cardiac or neurologic involvement, uncontrolled hypercalcemia or other impaired of quality of life.1-3
For cutaneous sarcoidosis, treatment is recommended for disfiguring and symptomatic disease. For discreet lesions, class I ultrapotent topical corticosteroids or intralesional triamcinolone may be appropriate.
Systemic corticosteroids are the treatment of choice for progressive or generalized disease. Additional therapeutics agents used in conjunction with steroids or as monotherapy include hydroxychloroquine and chloroquine, methotrexate and tetracycline.
For refractory skin disease, medications that interfere with TNF alpha such as thalidomide, infliximab and adalimumab may be of benefit. Severely disfiguring drug resistant disease may require reconstructive surgery.1-3
Other answer choices
Lupus vulgaris is a persistent and progressive form of cutaneous tuberculosis, presenting initially on the head and neck with small, defined, reddish-brown lesions that enlarge and progress to form plaques.4
Lupus miliaris disseminatus faciei is a rosacea-like syndrome clinically characterized by discrete reddish-brown papules on the face, often periorbitally or periorally, which may resolve with residual pitted scars.5
Lupus profundus is a form of chronic cutaneous lupus erythematosus featuring painful firm subcutaneous nodules in areas of increased fat deposition. Remission and flares that ultimately leave atrophic scarring characterize the clinical course.6
Diya Banerjee, BA, is a medical student at Baylor College of Medicine.
Adam Rees, MD, is a graduate of the University of California Los Angeles School of Medicine and a resident in the Department of Dermatology at Baylor College of Medicine also in Houston.
- Haimovic A, Sanchez M, Judson MA, Prystowsky S. Sarcoidosis: a comprehensive review and update for the dermatologist: part I. Cutaneous disease. J Am Acad Dermatol. 2012;66(5):699.e1-18.
- Haimovic A, Sanchez M, Judson MA, Prystowsky S. Sarcoidosis: a comprehensive review and update for the dermatologist: part II. Extracutaneous disease. J Am Acad Dermatol. 2012;66(5):719.e1-10.
- Bolognia, Jean, Joseph L. Jorizzo, and Ronald P. Rapini. Chapters 6, 8 and 14. Dermatology. St. Louis, Mo.: Mosby/Elsevier, 2008.
- Fitzpatrick TB, Freedberg IM. Fitzpatricks’s Dermatology in General Medicine. 2003.
- Van de scheur MR, Van der waal RI, Starink TM. Lupus miliaris disseminatus faciei: a distinctive rosacea-like syndrome and not a granulomatous form of rosacea. Dermatology (Basel). 2003; 206(2):120-3.
- Okon LG, Werth VP. Cutaneous lupus erythematosus: diagnosis and treatment. Best Pract Res Clin Rheumatol. 2013; 27(3):391-404.