Case Quiz: An Unusual Diagnosis in a Young Woman With Abdominal Pain
Author
Aimee M. Barton, MD
Assistant Professor, Department of Pediatrics
Division of Neonatology
Georgetown University Medical Center
Washington, DC
Disclosure: Aimee M. Barton, MD, has disclosed no relevant financial relationships.
Editor
Lars Grimm, MD, MHS
House Staff
Department of Internal Medicine
Duke University Medical Center
Durham, North Carolina
Disclosure: Lars Grimm, MD, MHS, has disclosed no relevant financial relationships.
Reviewer
Robert A. Schwartz, MD
Professor and Head, Dermatology
Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health
UMDNJ-New Jersey Medical School
Newark, New Jersey
Disclosure: Robert A. Schwartz, MD, has disclosed no relevant financial relationships.
Inflammatory skin conditions in children are important can't-miss entities. They must be readily differentiated from other pediatric skin disorders because the treatment for inflammatory conditions may exacerbate other conditions if improperly diagnosed.
Irritation around the mouth of a patient with an inflammatory skin condition is shown.
All of the following are true about the pictured condition EXCEPT:
A. It usually starts in early infancy
B. Incidence and prevalence appear to be increasing
C. Genetic factors are not indicated in its development
D. It is often associated with other immunoglobulin (Ig)E diseases
Answer: C. Genetic factors are not indicated in its development
Which of the following statements is INCORRECT regarding the pictured condition?
A. It is hypothesized to be secondary to immune dysfunction
B. It is also hypothesized to be due to an epithelial cell defect in affected persons
C. In this condition, transepidermal water loss is decreased
D. Financial burden of this condition is comparable to that of asthma, arthritis, and diabetes
E. Mortality is uncommon
Answer: C. In this condition, transepidermal water loss is decreased
Atopic dermatitis is a chronic, relapsing, pruritic skin disorder. The prevalence in the United States is 10%-12% of children (0.9% of adults) and has increased greatly in the last decade. Atopic dermatitis affects all races, with a slightly increased female prevalence. Eighty-five percent of cases occur in the first year of life, with 95% occurring by 5 years. The pathophysiology is poorly understood but thought to be either immune dysfunction resulting in IgE sensitization with secondary epithelial-barrier disturbance or a defect in epithelial cells with immunologic aspects being secondary. An infant with a typical appearance of atopic dermatitis of the face is shown.
Diagnostic criteria for atopic dermatitis include pruritus, eczematous changes that vary with age, early age of onset, atopy, xerosis, personal history of asthma or hay fever, or history of atopic disease in a first-degree relative in patients younger than 4 years of age. Atopic dermatitis is characterized by incessant pruritus; children often scratch uncontrollably. Primary physical findings include xerosis, lichenification, eczematous lesions, excoriations, and crusting. In infancy, the whole body, except the diaper area, suffers from xerosis. Early lesions affect the creases with erythema and exudation, later localizing to cheeks (shown), forehead, and scalp. It also involves the extensor surfaces of the legs. These lesions are ill-defined, erythematous, and scaly patches and plaques that are often crusted. Lichenification is rare in infancy. Image courtesy of Wikipedia Commons.
In childhood, xerosis continues to be generalized, with lichenification being common over folds, bony protuberances, and the forehead. Lesions are eczematous and exudative. There is often pallor of the face with erythema and scaling around the eyes. Lesions also affect the flexural creases (shown), concentrated primarily in the antecubital and popliteal fossae and buttock-thigh creases. Excoriations and crusting are also common. Clinicians must be careful not to confuse crusting with infection. In adulthood, xerosis continues to be prominent, with lesions becoming more diffuse. The face is often involved. Lichenification may be present with a brown macular ring sometimes noted around the neck. Image courtesy of Wikipedia Commons.
Atopic dermatitis is indistinguishable from other causes of dermatitis. Factors related to development of atopic dermatitis include genetics, infection, hygiene, climate, and food antigens. Laboratory testing is rarely necessary, but a platelet count will help exclude Wiskott-Aldrich syndrome. Treatment involves conservative management with lukewarm baths and moisturizers as well as topical steroids. Immunomodulators can be used for resistant lesions. Patients should avoid foods that provoke allergic reactions and activities that cause excessive sweating. The most common complication is infection with staphylococcal or streptococcal species due to the frequent skin breakdown. Flexural involvement of atopic dermatitis is shown.
Target lesions from an inflammatory skin condition are shown.
Which of the following are FALSE statements about the condition pictured?
A. It can be a chronic condition
B. It is considered to be a type IV hypersensitivity reaction
C. The minor form has extensive mucosal involvement
D. Males are slightly more often affected
E. It typically affects older adults
Answer: C. The minor form has extensive mucosal involvement
All of the following statements concerning the pictured condition are true EXCEPT:
A. Prodromal symptoms are usually absent or mild in the minor type
B. The rash starts on the extremities symmetrically with centripetal spreading
C. Half of patients with the major type have prodromes
D. Oral involvement may result in difficulty eating, drinking, or opening the mouth
E. Nearly all children with this condition have a history of herpes infection
Image courtesy of Wikipedia Commons.
Answer: E. Nearly all children with this condition have a history of herpes infection
Erythema multiforme (EM) is an acute, self-limited condition caused by a type IV hypersensitivity reaction to infections and medications. EM minor represents a localized eruption with minimal or no mucosal involvement, while EM major and Stevens-Johnson syndrome (SJS) represent more severe, possibly life-threatening conditions. Controversy exists as to whether EM and SJS represent 2 distinct disorders or a spectrum of 1 disease process. The pathophysiology of EM is thought to be the result of a cell-mediated reaction. The exact incidence is unknown, with males being affected slightly more often than females. It mainly affects young individuals in their second to fourth decade, although children may also develop it. EM resulting from antibiotic usage is shown courtesy of Wikipedia Commons.
Which of the following statements is INCORRECT regarding EM?
A. The hallmark is a target lesion
B. There is variable mucous membrane involvement
C. The lesion will expand over 24-48 hours to a maximum of 6 cm
D. Some lesions appear at areas of previous trauma
Answer: C. The lesion will expand over 24-48 hours to a maximum of 6 cm
Prodromal symptoms are usually absent or mild in EM minor. Its abrupt onset often occurs within 3 days of nonspecific upper respiratory tract symptoms, starting on the extremities and spreading centripetally (shown). In the major form, 50% of patients experience a prodromal phase that may include fever, discomfort, cough, sore throat, vomiting, chest pain, and diarrhea for 1-14 days before onset of the rash. The major form may include mucosal, conjunctival, and genital involvement. Half the children with EM have history of herpes simplex virus infection, usually preceding EM onset by 3-14 days. Image courtesy of Wikipedia Commons.
All of the following statements regarding the pictured condition are true EXCEPT:
A. Mucosal lesions are present in 70% of cases
B. More severe erosions of at least 2 mucosal surfaces are seen in the major type
C. Conjunctival lesions are usually severe
D. Genital lesions may be painful and hemorrhagic
E. Mucosal lesions usually heal without sequelae
Answer: C. Conjunctival lesions are usually severe
The cutaneous hallmark is a target lesion (shown) with variable mucous membrane involvement. The initial lesion will expand over 1-2 days to a maximum of 2 cm in diameter. Some appear at areas of previous trauma, known as Koebner phenomenon. They are symmetrical and appear mostly on the extensor surfaces of the extremities. Mucosal lesions are present in as many as 70% of patients with EM and are usually oral. Image courtesy of Wikipedia Commons.
Involvement of at least 2 mucosal surfaces is seen in EM major. It is more severe and characterized by hemorrhagic crusting of the lips and ulceration of the nonkeratinized mucosa (shown). Eye involvement is usually mild, while genital lesions may be painful and often consist of hemorrhagic bullae and erosions. Mucosal lesions usually heal without sequelae. EM major is often associated with generalized lymphadenopathy. Mucosal involvement is more severe and extensive in SJS than EM major.
Laboratory results for EM may show erythrocyte sedimentation rate (ESR) elevation, moderate leukocytosis, and mild liver function test (LFT) elevation in severe cases. Punch biopsy specimens can confirm the diagnosis and rule out other conditions. Suspected drugs should be stopped immediately; infections should be treated appropriately. Treatment is mostly symptomatic, with antihistamines, analgesics, local skin care, and mouthwash. In some cases topical steroids are prescribed. Liquid antiseptic use during bathing may help prevent superinfection. Most courses are uncomplicated. EM minor usually subsides within 2-3 weeks without scarring. EM major has a mortality rate of less than 5%, with a more protracted course. Hyperpigmentation or hypopigmentation may be noted after healing. Healing of mucosal lesions is usually complete. Raised atypical target and arcuate lesions are shown.
Lichen planus is a pruritic eruption that is characterized by violaceous polygonal papules and occasional a fine scale (shown). The condition is reported in 1% of all new patients in the United States, with higher incidence seen in December and January. There is no significant geographic variation in frequency noted and no known racial predispositions. It affects males and females equally, with most patients aged 30-60 years, although it can occur at any age, even in childhood. It is caused by a cell-mediated immune response of unknown origin and may be found with other diseases of altered immunity including ulcerative colitis, alopecia areata, vitiligo, dermatomyositis, morphea, myasthenia gravis, and lichen sclerosis.
All of the following statements about lichen planus are true EXCEPT:
A. It is most commonly found on flexor surfaces of the upper extremities, genitalia, and mucous membranes
B. Variations include actinic, linear, and erosive forms
C. Hypertrophic lichen planus is often transient
D. Pigmentosus and pemphigoides types are rare
Answer: C. Hypertrophic lichen planus is often transient
The lesions of lichen planus may present in many clinical forms, including actinic, annular, atrophic, erosive, follicular, hypertrophic, linear, pigmented, and vesicular/bullous. Papules are shiny, violaceous, and polygonal and can vary in size from 1 mm to over 1 cm in diameter (shown). Most cases of lichen planus are insidious, with an initial lesion located on flexor surfaces of the limbs. It is most commonly found on flexor surfaces of the upper extremities, genitalia, and mucous membranes. Maximal spreading occurs in 2-16 weeks. Pruritus is common.
Which of the following statements regarding lichen planus is TRUE?
A. Mucous membrane involvement only occurs with skin involvement
B. 85% of cases resolve within 18 months
C. The mean duration of symptoms is 3 years
D. Ungual involvement is seen in 50% of patients
Answer: B. 85% of cases resolve within 18 months
Mucous membrane involvement in lichen planus may be seen even without skin involvement and is most common on the tongue and buccal mucosa. Oral lesions (shown) may be asymptomatic or have a burning sensation. In more than 50% of patients, lesions resolve within 6 months, with 85% resolving within 18 months. Large, annular, hypertrophic lesions and mucous membrane involvement are more likely to become chronic. Atrophy and scarring are seen in hypertrophic and scalp lichen planus. Oral lesions, particularly in men, have an increased incidence of malignant transformation, while cutaneous lesions do not. Vulvar lesions in women may be associated with vulvar squamous cell carcinoma.
The diagnosis is typically clinical, especially in classic cases with flexural involvement (shown). Direct immunofluorescence reveals globular deposits of IgM and complement mixed with apoptotic keratinocytes. Histologically, there is presence of irregular acanthosis and colloid bodies in the epidermis with destruction of the basal layer. Lichen planus is a self-limited disease that usually resolves in 8-12 months. Mild cases can be treated with topical steroids; more severe lichen planus may need intensive therapy with retinoids or immunosuppressants.
Psoriasis is a chronic inflammatory disorder for which patients have a genetic predisposition. Psoriasis affects 2%-3% of people in the United States and worldwide. Prevalence is 1.3% in African American and 2.5% in white populations. People with severe psoriasis have a small reduction in life span (3.5 years in men, 4.4 years in women). The condition is associated with cardiovascular disease, smoking, alcohol use, lymphoma, depression, and suicide. Patients may be exposed to potentially harmful drug therapies; skin cancers may develop. Psoriasis is slightly more common in women, with 10%-15% of new cases beginning before age 10 years. A patient with guttate psoriasis that developed after steroids were withdrawn for pregnancy is shown courtesy of Randy Park, MD.
Psoriasis is often debilitating, with symptoms that may include all of the following EXCEPT:
A. Fever
B. Family history of a similar rash
C. Pruritus
D. Long-term rash with recent presentation of joint pain
E. Recent streptococcal throat infection, viral infection, immunization, use of antimalarial drug, or trauma
Answer: A. Fever
The pathogenesis of psoriasis is not completely understood, but triggers include infection, trauma, or stressful events. Once triggered, there is leukocyte recruitment in the dermis and epidermis, resulting in characteristic plaques. Many clinical features can be explained by the production of mediators, which lead to vascular engorgement due to superficial blood vessel dilation and altered epidermal cell cycle. This leads to an accelerated cell turnover rate decreased from 23 to 3-5 days, resulting in improper cell maturation. The cells retain their nuclei (parakeratosis) and also fail to release adequate levels of lipids, resulting in poorly adherent stratum corneum. This produces the flaking, scaly presentation commonly seen in psoriasis (shown).
There are multiple types of psoriasis. Plaque psoriasis (shown) presents with raised, inflamed lesions covered with a silvery white scale on the extensor surfaces. Scalp psoriatic plaques affect 50% of patients. Small, pink papules predominantly on the trunk characterize guttate psoriasis, which usually has a sudden onset 2-3 weeks after an upper respiratory infection. Inverse psoriasis occurs on flexural surfaces with smooth lesions that lack scaling due to the moist environment. In pustular psoriasis, pustules appear on palms and soles or diffusely over the body. In nail psoriasis, the nails become pitted, yellow, and thickened and may separate from the nail bed. Oral psoriasis manifests with whitish lesions on the oral mucosa. Psoriatic arthritis affects 10%-30% of patients with skin symptoms, sometimes involving joints of the hands and feet.
Psoriasis may have all of the following related laboratory results EXCEPT:
A. Negative rheumatoid factor
B. Extremely elevated ESR
C. Sterile fluid from vesicles with lymphocytic infiltrate
D. Possibly elevated uric acid level
Answer: B. Extremely elevated ESR
Laboratory studies appropriate in psoriasis cases include rheumatoid factor (negative), erythrocyte sedimentation rate (usually normal), uric acid level (can be elevated), microscopic examination of fluid from vesicles (sterile with lymphocytic infiltrate), and fungal studies (negative). Radiographs of affected joints may be helpful in distinguishing type of arthritis, and bone scans can identify early joint involvement. Before starting systemic therapies, one should consider baseline laboratory studies (complete blood count, blood urea nitrogen/creatinine, LFTs, hepatitis panel, tuberculosis screen, etc.). An image of nail psoriasis is shown courtesy of Wikipedia Commons.
In treating psoriasis, restoration of barrier function is key. Daily application of moisturizing cream is a successful adjunct therapy. Nonprescription tar preparations are often helpful, as are sunlight exposure and oatmeal baths. Salicylic acid may be used to remove large scales (shown). Topical corticosteroids reduce plaque formation and are the first line of therapy along with triamcinolone cream. Vitamin D analogs are used in patients with resistant psoriasis. Topical retinoids are used for facial lesions in patients not at risk for pregnancy. Systemic therapy includes antimetabolites and immunomodulators. Patients should be instructed to avoid injury to the skin and drugs that are known to flare psoriasis. Complications include secondary infections, arthritis, and mitral valve prolapse. Image courtesy of Wikia.
Granuloma gluteale infantum (GGI), previously known as vegetating potassium bromide toxic dermatitis, is a rare skin disorder of controversial etiology. Only 30 cases have been reported worldwide. There is a higher incidence in boys. Its peak age of incidence is 4-9 months. Most infants have a history of a preceding inflammatory skin condition in the area. It may be related to a unique cutaneous response to local inflammation, maceration, and secondary infection. Most patients had been treated with fluorinated steroid, which may alter dermal collagen.
All of the following statements about GGI are true EXCEPT:
A. It is characterized by oval, reddish-purple granulomatous nodules on gluteal surfaces and groin areas of infants
B. The condition does not invade deep body folds
C. Lesions typically run parallel to areas of maximum skin tension
D. Candida hyphae are detected in all biopsy specimens of patients
Answer: D. Candida hyphae are detected in all biopsy specimens of patients
Classic GGI has oval, reddish-purple granulomatous nodules on the gluteal surfaces and groin areas of infants. Lesions are also found in intertriginous areas. The long axis of most lesions runs parallel to skin lines of cleavage or maximum skin tension. There are typically 1-30 lesions that are red-purple to red-brown in color in an affected area. Nodules are 5-40 mm in diameter and are discrete with smooth or slightly lichenified surfaces. A biopsy specimen with H&E staining shows a parakeratotic stratum corneum, hyperkeratosis and acanthosis of the epidermis (shown), absence of foreign body giant cells, extravasation of red blood cells, and deposits of hemosiderin.
Which of the following is TRUE of GGI?
A. Diaper use should be discontinued as much as possible
B. Topical steroids are the treatment of choice
C. Lesions persist for 8-10 weeks with resolution over the following 3-5 weeks
D. Hypertrophic scars are common
Answer: A. Diaper use should be discontinued as much as possible
Treatment of GGI is not usually required because the lesions spontaneously resolve; however, therapy for any initiating inflammatory process and secondary infection is helpful. Treatment options include barrier products, intralesional corticosteroids, and flurandrenolide-impregnated tape. Care must be taken to keep the diaper area clean and dry. Diaper use should be discontinued as much as possible and contact irritants avoided. Complications include secondary bacterial or fungal infection. Lesions persist for 3-6 weeks, then resolve over the next 2-4 weeks. Residual hyperpigmented macules and lax scars are seen in some patients. A higher-power photomicrograph reveals a dense inflammatory infiltrate.
Author
Aimee M. Barton, MD
Assistant Professor, Department of Pediatrics
Division of Neonatology
Georgetown University Medical Center
Washington, DC
Disclosure: Aimee M. Barton, MD, has disclosed no relevant financial relationships.
Editor
Lars Grimm, MD, MHS
House Staff
Department of Internal Medicine
Duke University Medical Center
Durham, North Carolina
Disclosure: Lars Grimm, MD, MHS, has disclosed no relevant financial relationships.
Reviewer
Robert A. Schwartz, MD
Professor and Head, Dermatology
Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health
UMDNJ-New Jersey Medical School
Newark, New Jersey
Disclosure: Robert A. Schwartz, MD, has disclosed no relevant financial relationships.
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