A clinical impact study of dermatologists' use of diagnostic gene expression profile testing to guide patient management.

Aim: Cutaneous melanocytic neoplasms with diagnostic and/or clinical ambiguity pose patient management challenges. Methods: Six randomized case scenarios with diagnostic/clinical uncertainty were described with/without a benign or malignant diagnostic gene expression profile (GEP) result. Results: Clinical impact was assessed by reporting the mean increase/decrease of management changes normalized to baseline (n = 32 dermatologists). Benign GEP results prompted clinicians to decrease surgical margins (84.2%). Malignant GEP results escalated surgical excision recommendations (100%). A majority (72.2%) reduced and nearly all (98.9%) increased follow-up frequency for benign or malignant GEP results, respectively. There was an overall increase in management plan confidence with GEP results. Conclusion: Diagnostic GEP tests help guide clinical decision-making in a variety of diagnostically ambiguous or clinicopathologically discordant scenarios.

Dermatologists' use of diagnostic gene expression profiles for personalized patient care. When your doctor takes a piece of a mole, that mole is looked at under the microscope by a pathologist. The pathologist is responsible for figuring out if the mole is dangerous or not. Dangerous moles are removed with surgery to make sure all the dangerous tissue is gone. Moles without a health threat are left alone. Sometimes figuring out how dangerous a mole is is difficult. The pathologist may not provide the doctor with enough information for them to know how to treat your mole. There is a test that can provide information on whether your mole is unsafe. This test is called diagnostic gene expression profiling or GEP. In this study, GEP is used to help doctors figure out how to treat a mole and how often the patient should be seen in the office for skin checks. With GEP, important changes in patient treatment were identified. These include the need for an additional surgery, how much healthy tissue should be removed during surgery and how often the patient should be seen in the office. For suspicious moles where the pathology report is unclear, GEP can provide information that leads to more appropriate and personalized patient care.

Ancillary diagnostic gene expression profile testing for ambiguous cutaneous melanocytic lesions helps optimize dermatologist recommendations for excision margin and follow-up.

Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female.

Amyloidosis cutis dyschromica is a rare form of cutaneous amyloidosis in which there is deposition of keratinocyte-derived amyloid with involvement of almost the entire integument, leading to diffuse dyschromia without associated systemic abnormalities. We report the case of a 40-year-old female who presented with the onset of diffuse hyperpigmentation shortly after birth, which was followed by the widespread development of numerous 2-5 mm hypopigmented macules. Biopsy of the one of these macules revealed eosinophilic globular material in the papillary dermis with Congo red birefringence which also stained positively for high-molecular weight cytokeratin. Electron microscopy confirmed the presence of 11 nm hollow fibrils, consistent with amyloid. Similar clinical changes were noted in a younger male sibling. Both patients also suffered from an unexplained neurological disorder characterized by atypical Parkinsonism, spasticity and motor weakness. This association has not been shown before and may represent a heretofore unreported contiguous gene syndrome.

Pityriasis lichenoides et varioliformis acuta: a disease spectrum.

Pityriasis lichenoides et varioliformis acuta (PLEVA), or Mucha-Habermann disease (MHD), is a cutaneous disorder evident with crops of erythematous macules and papules, usually on the trunk and flexural areas of the extremities. Its etiology remains unknown. PLEVA is speculated to be an inflammatory reaction triggered by certain infectious agents, an inflammatory response secondary to T-cell dyscrasia, or an immune complex-mediated hypersensitivity. Histologic examination of a skin biopsy specimen is the standard for the identification of PLEVA, but definitive diagnosis may be difficult. Apart from the febrile ulcerative variant, which may be fatal, PLEVA tends to be self-limited in its course. Treatment is targeted mainly at the symptomatic relief of pruritus.

X-linked ichthyosis: an oculocutaneous genodermatosis.

X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis. XLI is usually evident during the first few weeks of life as polygonal, loosely adherent translucent scales in a generalized distribution that desquamate widely. These are quickly replaced by large, dark brown, tightly adherent scales occurring primarily symmetrically on the extensor surfaces and the side of the trunk. In addition, extracutaneous manifestations such as corneal opacities, cryptorchidism, and abnormalities related to contiguous gene syndromes may be observed. Diagnosis of XLI is usually made clinically, as the histopathology is nonspecific, but confirmation may be obtained through either biochemical or genetic analysis. Treatment should focus on cutaneous hydration, lubrication, and keratolysis and includes topical moisturizers and topical retinoids.

Cutaneous manifestations of systemic tropical parasitic diseases.

Tropical diseases continue to cause significant health problems in developing nations. An overview of illnesses with notable cutaneous findings caused by protozoans and helminthes is provided. The role of the health care provider in disease management is described.

Herpes zoster following intra-articular corticosteroid injection.

Localized herpes zoster following intra-articular corticosteroid injection is remarkable. We describe an 80-year-old woman with severe osteoarthritis that received an intra-articular injection of 80 mg methylprednisolone in her knee, followed 1 day later by the appearance of linear unilateral vesicles and bullae on her leg in a dermatomal distribution adjacent to the injection site. The roofs of several blisters showed classic viral cytopathic effects for herpes including keratinocytes with multinucleation and margination of chromatin. Varicella zoster virus immunostaining revealed positive staining in the keratinocytes. One plausible explanation is herpes zoster virus reactivation secondary to localized immunosuppression from corticosteroid injection.

Cutaneous horn: a potentially malignant entity.

A cutaneous horn is a conical, dense, hyperkeratotic protrusion that often appears similar to the horn of an animal. It is a morphologic designation referring to an unusually cohesive keratinized material, not a true pathologic diagnosis. Cutaneous horns occur in association with, or as a response to, a wide variety of underlying benign, pre-malignant, and malignant cutaneous diseases. The most important common concern is distinguishing a hyperkeratotic actinic keratosis from a cutaneous squamous cell carcinoma. Keratoacanthoma is another cause, as illustrated herein as a projective cutaneous tumor with a fingernail-like appearance. The treatment of choice for cutaneous horns is shave excision with subsequent histopathologic evaluation to rule out underlying malignancy and to guide potential further therapy.

A "hyperextensive" review of Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensibility, delayed wound healing, joint hypermobility, thin skin, easy bruising, tissue fragility, "cigarette-paper" scarring over bony prominences, mitral valve prolapse, and other findings. There are 6 main types of EDS. Regardless of presentation as a chief concern or an incidental finding, physicians should be aware that the prominent skin findings of EDS are cutaneous signs of an important systemic disorder.