Katherine A. Gordon

Alopecia: evaluation and treatment.

Hair loss is a very common complaint. Patients may describe increased shedding and diffuse or localized alopecia. The differential diagnosis of hair loss includes a number of disorders causing cicatricial or noncicatricial alopecias. This paper describes the clinical approaches and diagnostic tests that are useful in the evaluation of patients presenting with alopecia. It also reviews treatments for noncicatricial alopecias, including androgenetic alopecia, alopecia areata, and telogen effluvium, as well as cicatricial alopecias, including lichen planopilaris, its clinical variant frontal fibrosing alopecia, and discoid lupus erythematosus.

Quality assessment of tissue specimens for studies of diabetic foot ulcers

Diabetic foot ulcers (DFUs) represent an important clinical problem resulting in significant morbidity and mortality. Ongoing translational research studies strive to better understand molecular/cellular basis of DFU pathology that may lead to identification of novel treatment protocols. Tissue at the non‐healing wound edge has been identified as one of major contributors to the DFU pathophysiology that provides important tool for translational and clinical investigations. To evaluate quality of tissue specimens and their potential use, we obtained 81 DFU specimens from 25 patients and performed histological analyses, immunohistochemistry and RNA quality assessments. We found that depth of the collected specimen is important determinant of research utility, and only specimens containing a full‐thickness epidermis could be utilized for immunohistochemistry and RNA isolation. We showed that only two‐thirds of collected specimens could be utilized in translational studies. This attrition rate is important for designs of future studies involving tissue specimen collection from DFU.

Allopurinol-induced palisaded neutrophilic and granulomatous dermatitis

We describe a 64-year-old man with past chronic myeloid leukemia. Palisading neutrophilic granulomatous dermatitis of the hands was diagnosed and related to recent allopurinol intake. Allopurinol is known to rarely cause granulomatous reactions, but this appears to be the first case of palisading neutrophilic granulomatous dermatitis induction. Possible mechanisms include immune complex deposition, an immune response directed against the metabolites of allopurinol, or allopurinol hypersensitivity exclusively localized to the skin.

Universal newborn screening: Knowledge, attitudes, and satisfaction among public health professionals

Objective Assess knowledge, attitude, and satisfaction with the newborn screening (NBS) system among pediatric public health leaders in the state of Florida. Methods Online surveys and open-ended telephone interviews were administered to 10 county medical directors for a state-funded program that oversees NBS. Survey questions examined basic knowledge regarding NBS, views on provider and parent access to NBS information, and recommendations for improving the information distribution system. Results Providers learn about NBS from the American Academy of Pediatrics, the Department of Health, and continuing medical education; however, 80% of providers were concerned about receiving inadequate information. Thirty percent of the providers surveyed reported that it takes >14 days to receive NBS results. The majority (80%) were concerned that parents may not receive adequate information about their infant’s condition, treatment, or prognosis. No provider reported being confident in his or her ability to assess how well a parent understands a positive NBS result. Eighty percent of those surveyed believe that the pediatric primary care provider is responsible for providing NBS information to parents and almost all of the providers (90%) believed parents should be notified of normal NBS results. Conclusions This study indicates dissatisfaction with and confusion about NBS. Addressing this problem requires action at the levels of medical education, clinical care, health policy, and information systems.

Cutaneous Langerhans cell histiocytosis with gastrointestinal involvement treated with dabrafenib

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by an abnormal clonal proliferation of histiocytes, with adult-onset LCH accounting for an estimated 30% of cases.1 The clinical spectrum of LCH varies widely, from asymptomatic single-organ involvement to severe and potentially fatal multisystem disease. Although cutaneous lesions are frequently encountered, gastrointestinal involvement in LCH is exceedingly rare, especially in the adult population. Effective treatment for LCH is poorly characterized because of rarity and heterogeneity of the disease. Twenty percent to 60% of LCH cases harbor the BRAF V600E proto-oncogene mutation, and reports show favorable response to BRAF inhibitors in this population.2, 3, 4 Dabrafenib is a targeted therapy that selectively inhibits the extracellular signal–related kinase pathway in patients with BRAF V600E mutated malignancies.5 Here we describe a case of adult primary cutaneous LCH with late-onset gastrointestinal involvement responsive to dabrafenib.

Hyperkeratotic plaques on the trunk and extremities

An 8-year-old white boy presented for a lifelong skin condition. At birth he had widespread blisters and erosions and later developed generalized, thick scaly plaques on his body and thinner scaling on his face. Biopsy specimens obtained for electron microscopy performed at birth revealed dyscohesive keratinocytes and clumped keratin intermediate filaments of suprabasal keratinocytes (Fig 1). The physical examination revealed generalized, thick, scaly plaques predominantly involving the flexural surfaces and brown hyperkeratotic, verrucous, scaly plaques on his trunk, legs, and arms (Fig 2). Thick, hyperkeratotic, yellow plaques covered his palms and soles (Fig 3), and he had a distinct odor.

Blaschkoid Skin Lesions in a Young Girl

A young girl presented to establish care for skin lesions on her trunk and extremities that had been present since birth. Her mother described an intermittent inflammatory reaction localized only to the patient’s abnormal skin lesions that was reproducible in febrile states and was concerned about asymptomatic, stable, dark brown lesions that had developed in areas of prior blistering and scarring on the patient’s right arm, left knee, and right upper back. There was no history of developmental delay, eye abnormalities, or seizures. Examination revealed irregular, dark brown, well-demarcated macules with regular pigment networks on dermoscopy within prominent soft, yellow, papular protrusions in a Blaschkolinear arrangement on her upper arms, particularly her right arm. The right flank demonstrated linear, atrophic pink plaques with focal erosions and crusting, evidencing recent inflammation described by the patient’s mother (Figure, A). Additional irregular, well-demarcated, evenly pigmented dark brown macules were present within pink, atrophic scars located on the right side of the trunk, the right upper back, and the left knee. She had well-healed surgical scars on the hands, syndactyly of the toes, and ventral pterygium and dystrophy of the fingernails and toenails (Figure, B). Previous treatment had included surgical excision of a frequently symptomatic focus of affected skin with subsequent adjacent tissue transfer. Additionally, she had received dental implantation of frontal upper incisors. Histopathologic slides from the prior excision of affected skin were reviewed (Figure, C). Macules and papular protrusions A Syndactyly of the toes and ventral pterygium of the toenails B Hematoxylin-eosin C

Diagnostic challenges in determining alopecia areata

Alopecia areata (AA) is the second most common cause of hair loss. It is crucial for the clinician to differentiate AA from other types of hair loss as it differs in prognosis and treatment. The diagnosis of AA can be made clinically; however, there are many nuances making an exact diagnosis challenging. This paper describes the differential diagnoses of both scarring and non-scarring hair loss that may mimic AA. It also highlights the diagnostic tests and pertinent findings that help distinguish AA from other types of hair loss.