Are You Confident of the Diagnosis? An overview of nevi Melanocytic nevi (typically shortened to “nevi”) are benign neoplasms of melanocytes found within the skin and are commonly referred to as “moles.” Nevi commonly first occur in childhood, although some nevi may be present at birth (so-called “congenital nevi”). Nevi commonly continue to develop into…

Are You Confident of the Diagnosis? What you should be alert for in the history Dyskeratosis congenita (DC) is a bone marrow failure (BMF) syndrome characterized by genetic mutations in the telomere complex. In its classic presentation, DC is a diagnosis based on clinical findings, although the onset of clinical findings may be highly variable.…

Are You Confident of the Diagnosis? What you should be alert for in the history Dyshidrotic dermatitis or dyshidrotic eczema is characterized by small vesicles on the lateral aspects of the fingers and sometimes the soles of the feet. This condition was originally believed to be due to dysfunction of the sweat gland or “dyshidrosis,”…

Are You Confident of the Diagnosis? Heparin and warfarin-induced skin necrosis need to be considered in this category as drug eruptions that cause dermal and epidermal necrosis. These two topics are covered in detail in this chapter. Toxic epidermal necrolysis and Stevens-Johnson syndrome cause epidermal necrosis. They will be considered in a separate chapter, so…

Are You Confident of the Diagnosis? Dr John Langdon Down first described Down syndrome in Britain in 1866. Almost a century later, Jérôme Lejeune in 1959 discovered the role of either a partial or complete third copy of chromosome 21 in this condition. This extra genetic material results from trisomy 21 (most common) chromosomal translocation…

Are You Confident of the Diagnosis? Perifolliculitis abscedens et suffodiens was first described by Spitzer in 1903 and then aptly so named by Hoffmann in 1908. The first American reports were by Wise and Parkhurst in 1921. Though Gray noted the complementary appearance of acne conglobata and perifolliculitis in 1931, it was not until Kierland…

Are You Confident of the Diagnosis? Characteristic findings on physical examination Deletion 22q11.2 is associated with a wide range of clinical findings. Congenital heart disease occurs in 76% of patients and primarily involves conotruncal malformations, such as tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus. Characteristic facial features include angular facies; small, posteriorly rotated…

Are You Confident of the Diagnosis? What you should be alert for in the history Skin findings are usually the trigger for a dermatologic consultation in a patient with suspected disseminated intravascular coagulation (DIC), consumptive coagulopathy, or purpura fulminans. but may precede the clinical recognition of the underlying coagulopathy. The dermatologist should be aware of…

Are You Confident of the Diagnosis? What you should be alert for in the patient’s history Diapers –Disposable diapers: cellulose-core diapers, absorbent gelling material (AGM) diapers (extra-absorbent)—prevent irritant-based diaper dermatitis by reducing wetness –Dye vs dye-free diapers: Patients may experience allergic contact dermatitis from the dyes within the diaper. –Cloth diapers consist of cotton weave…

Are You Confident of the Diagnosis? Dermatomyofibroma is a rare, benign, cutaneous neoplasm. Typically it presents as an indurated, plaque-like lesion on the shoulder girdle. Often the lesion will have been present for some time with slow growth. The prototypical patient is a young to middle-aged female; however, there have have been case reports of…

Are You Confident of the Diagnosis? The diagnosis of dermatofibroma (DF), also referred to as fibrous histiocytoma, is made clinically and confirmed histologically if warranted. A patient history of a solitary, slow-growing cutaneous nodule on the extremities of young to middle-aged adults, often female, is consistent with DF. Usually these lesions are asymptomatic. Characteristic findings…

Are You Confident of the Diagnosis? What you should be alert for in the history Patients with dermatitis herpetiformis (DH) usually complain of weeks to months of intense pruritus that has a stinging or burning quality. Only about 30% to 40% of patients admit to gastrointestinal symptoms of celiac disease. When patients do complain of…

Are You Confident of the Diagnosis? Characteristic findings on physical examination These lesions are usually present at birth as blue-black macular lesions found overlying the lumbosacral area (Figure 1). The lesions can range in size from 5mm to 10cm or more. The pigment will not accentuate when observed with a Wood’s lamp. The lesions can…

Are You Confident of the Diagnosis? Demodex mites are the most common human ectoparasite. They are normally found in the pilosebaceous glands, and their role in causing human disease is controversial. High numbers of mites as well as the presence of mites free in the dermis has been implicated to cause various clinical manifestations in…

Are You Confident of the Diagnosis? Darier’s disease is a rare autosomal dominant disease with up to 95% penetrance but variable phenotypic expression even between family members. Some cases of Darier’s can be attributed to random new mutations in the absence of a familial history of the disease. It is characterized as a disorder of…

Are You Confident of the Diagnosis? What you should be alert for in the history Pilar or trichilemmal cysts typically present as asymptomatic, cystic to firm dermal or subcutaneous nodules. The most common location is the scalp, although they can develop on other sites as well. Patients usually report a stable size or history of…

Are You Confident of the Diagnosis? What you should be alert for in the history Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous vascular malformation defined by persistent reticulate erythema (cutis marmorata). It may present with a variety of congenital anomalies, most commonly hypoplasia or hyperplasia of the affected limb. CMTC invariably presents at birth…

Are You Confident of the Diagnosis? What you should be alert for in the history –Solitary persistent lesion on the skin –Sometimes several grouped lesions –Generalized scattered lesions are uncommonRelated Content –Either itchy or asymptomatic –Common triggers: arthropod bite, tattoos (particularly red dye), vaccinations, acupuncture, leech application, medications, Borrelia burgdorferi infection, ear piercing –Many cases…

Are You Confident of the Diagnosis? Cutaneous lupus mucinosis (CLM), or papulonodular mucinosis, is a rare variant of cutaneous lupus erythematosus (CLE) characterized by an abundance of dermal mucin resulting in papular lesions. It occurs in approximately 1.5% of patients with lupus erythematosus. Secondary mucin deposition can be seen, usually histologically, in more classic lupus…

Are You Confident of the Diagnosis? Pelvic endometriosis affects around 10% of females of reproductive age. Involvement typically includes the ovaries, fallopian tubes, uterosacral ligaments, rectovaginal septum and peritoneum. Less than 15% of patients with pelvic endometriosis have coexistent extrapelvic endometriosis, which is most commonly found either intraabdominally (intestinal, renal, and appendiceal involvement) or in…

Are You Confident of the Diagnosis? What you should be alert for in the history Cushing’s syndrome results from prolonged exposure to glucocorticoid excess and includes a wide variety of signs and symptoms. Depending on the duration and degree of glucocorticoid excess, the clinical manifestations may range from mild to florid. Common symptoms or complaints…

Are You Confident of the Diagnosis? What you should be alert for in the history Cryptococcosis is an invasive mycosis that occurs worldwide causing significant morbidity and mortality. Cutaneous cryptococcosis is a condition that is classified as a primary or secondary infection. Primary cutaneous cryptococcosis is a distinct infection that is usually a result of…

Are You Confident of the Diagnosis? What you should be alert for in the history Patients may give a history of Raynaud’s phenomenon, arthralgia, myalgia, or signs of palpable purpura in the context of a connective tissue disease, lymphoproliferative disorders or infectious diseases. Thirty to fifty percent of cases occur without any systemic underlying condition…

Are You Confident of the Diagnosis? What you should be alert for in the history Patients may give a history of a painful, necrotic ulcer(s) located on the extremities, acral surfaces and ears, which appear after cold exposure and are refractory to care with standard therapy. Also, there may be a history of cold urticaria,…