Cutaneous manifestations of cystic fibrosis.

Cystic fibrosis (CF) is caused by a mutation in the Cystic fibrosis transmembrane conductance regulator (CFTR) gene, and features recurrent sinus and pulmonary infections, steatorrhea, and malnutrition. CF is associated with diverse cutaneous manifestations, including transient reactive papulotranslucent acrokeratoderma of the palms, nutrient deficiency dermatoses, and vasculitis. Rarely these are presenting symptoms of CF, prior to pulmonary or gastrointestinal sequelae. Cutaneous drug eruptions are also highly common in patients with CF (PwCF) given frequent antibiotic exposure. Finally, CFTR modulating therapy, which has revolutionized CF management, is associated with cutaneous side effects ranging from acute urticaria to toxic epidermal necrolysis. Recognition of dermatologic clinical manifestations of CF is important to appropriately care for PwCF. Dermatologists may play a significant role in the diagnosis and management of CF and associated skin complications.

Clonal cutaneous and neurosyphilis: A pitfall in pseudolymphoma diagnosis.

Syphilis is a sexually transmitted infectious disease caused by the bacterium Treponema pallidum and can cause a wide variety of cutaneous manifestations, most commonly, a papulosquamous eruption of the trunk and extremities. Treatment with penicillin is curative. We report a case of a 69-year-old man who presented with recent onset of blurry vision and a nonpainful, nonpruritic eruption of pink-to-violaceous dermal nodules on his upper trunk and upper extremities. Biopsies of two separate locations revealed a dense superficial and deep perivascular atypical lymphocytic infiltrate with admixed plasma cells, histiocytes, and eosinophils. Some scattered cells expressed CD30, PD1, BCL-6, and ICOS. T-cell receptor (TCR)-rearrangement showed an identical TCR-gamma clone between both biopsy specimens. The patient was subsequently seen by ophthalmology and diagnosed with acute anterior uveitis. Rapid plasma reagin was reactive and cerebrospinal fluid studies showed findings consistent with a diagnosis of neurosyphilis. A T. pallidum immunostain of the skin biopsies was performed upon re-review, and was diffusely positive for spirochetes at the dermal-epidermal junction and within injured vessels. The patient was treated with penicillin G with near-resolution of his skin lesions. This case highlights the unusual ability of syphilis to mimic a T-cell lymphoma with matching clones across two different biopsy sites.

Watersport hands.

Aquagenic syringeal acrokeratoderma is a newly described condition of the palms and soles characterized by hypopigmented papules and plaques, elicited after submersion in water. Symptoms include a burning pain and a tightening sensation in the palms, as well as hyperhidrosis. Initially thought to be rare, its frequent citation in the literature points to a more common entity. It is more often found in young women and has been linked to a number of medications and illnesses, including nonsteroidal anti-inflammatory drugs and cystic fibrosis. It is typically self-limiting, but certain medications such as topical aluminum chloride or salicylic acid ointment have been found to be an effective treatment option. This case details a collegiate-level coxswain who presented to the university athletic training room with a typical presentation of aquagenic syringeal acrokeratoderma. For an aquatic athlete, aquagenic syringeal acrokeratoderma can be a distressing condition that can limit training and athletic participation. As such, the sports medicine physician should be knowledgeable about aquagenic syringeal acrokeratoderma to provide effective counseling and treatment options for the athlete.

Imiquimod cream 5% for the treatment of arsenic-induced cutaneous neoplasms.

Long-term exposure to arsenic has been linked to the development of numerous cutaneous neoplasms including arsenical keratoses, basal cell carcinomas (BCCs), and squamous cell carcinomas (SCCs). We report a patient with a remote history of psoriasis treated with arsenic who subsequently developed more than 40 nonmelanoma skin cancers as well as arsenical keratoses. This patient had a remarkable response to imiquimod cream 5% applied once daily to affected areas for 6 weeks with complete resolution of all cutaneous neoplasms and no evidence of recurrence in more than 3 years of clinical surveillance.

Cystic fibrosis presenting with dermatitis.

BACKGROUND: Patients with cystic fibrosis classically present with evidence of pulmonary disease, exocrine pancreatic insufficiency, and high sweat chloride concentrations. Dermatitis as an initial manifestation of the disease is uncommon and has been attributed to multiple nutritional deficiencies. OBSERVATION: We describe the case of a 3-month-old female infant with cystic fibrosis presenting with dermatitis in the setting of protein-energy malnutrition. A review of the laboratory study results in this case and others showed that a deficiency in zinc, essential fatty acids, and protein likely contributes to the development of the rash seen in cystic fibrosis. CONCLUSIONS: Given the frequent delay in diagnosis, as well as the increased morbidity and mortality associated with protein-energy malnutrition in these patients, it is important to consider cystic fibrosis as a possible diagnosis in any infant presenting with a rash and other signs of malnutrition. The relative contribution of specific nutritional deficiencies and the degree to which they influence and interact with each other in producing the dermatitis remain unclear, although they may all affect a common underlying metabolic pathway.

Metastatic cutaneous breast carcinoma: A case report and review of the literature.

Cutaneous metastatic carcinoma, also known as carcinoma erysipeloides, is an unusual clinical finding. In women, it is most frequently found in association with breast cancer rather than other visceral malignancies. Breast cancer patients can present with cutaneous manifestations of breast disease at the time of their initial diagnosis; however, cutaneous metastases more often present well after the initial diagnosis and treatment of the breast disease. Prompt recognition of skin metastases by the plastic surgeon, especially during the delayed setting of reconstructive surgery following mastectomy, allows for earlier intervention in treating the systemic spread of the disease. A clinical case of carcinoma erysipeloides presenting in this delayed setting is outlined in the present report, along with a review of the literature.

Alteration of marrow cell gene expression, protein production, and engraftment into lung by lung-derived microvesicles: a novel mechanism for phenotype modulation.

Numerous animal studies have demonstrated that adult marrow-derived cells can contribute to the cellular component of the lung. Lung injury is a major variable in this process; however, the mechanism remains unknown. We hypothesize that injured lung is capable of inducing epigenetic modifications of marrow cells, influencing them to assume phenotypic characteristics of lung cells. We report that under certain conditions, radiation-injured lung induced expression of pulmonary epithelial cell-specific genes and prosurfactant B protein in cocultured whole bone marrow cells separated by a cell-impermeable membrane. Lung-conditioned media had a similar effect on cocultured whole bone marrow cells and was found to contain pulmonary epithelial cell-specific RNA-filled microvesicles that entered whole bone marrow cells in culture. Also, whole bone marrow cells cocultured with lung had a greater propensity to produce type II pneumocytes after transplantation into irradiated mice. These findings demonstrate alterations of marrow cell phenotype by lung-derived microvesicles and suggest a novel mechanism for marrow cell-directed repair of injured tissue.

Acquired hypertrichosis lanuginosa as a presenting sign of metastatic prostate cancer with rapid resolution after treatment.

BACKGROUND: Acquired hypertrichosis lanuginosa (AHL) is a rare cutaneous disorder that involves spontaneous growth of lanugo-type hair in association with overt or occult malignant neoplasms. Bronchopulmonary and gastrointestinal malignancies are most commonly associated. CASE PRESENTATION: We report the occurrence of AHL associated with metastatic prostate cancer and its abrupt resolution after bilateral orchiectomy. To our knowledge, this is the first reported case of an association with prostate cancer. LIMITATIONS: The case presented represents a single patient; therefore, the findings and results reported may not be applicable to all patient populations. CONCLUSION: A variety of cutaneous findings are considered warning indicators of underlying neoplastic disease. Physician awareness of such signs can prompt timely and potentially life-saving investigations and interventions. AHL is regarded as such a sign. Physician awareness of the addition of prostate cancer to the growing list of AHL-associated malignancies provides rationale for appropriate testing and referral.

Malignant acanthosis nigricans and tripe palms associated with pancreatic adenocarcinoma.

Malignant acanthosis nigricans is a disease that has an abrupt onset and is most commonly associated with gastric adenocarcinoma. It also has occurred as a paraneoplastic phenomenon in other carcinomas. Malignant acanthosis nigricans can occur simultaneously, before, or after the onset of internal malignancy. Malignant acanthosis on the palms is referred to as tripe palms. We describe a rare association of oral malignant acanthosis nigricans and tripe palms secondary to an underlying pancreatic adenocarcinoma.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a rare disorder caused by mutations of the FOXP3 gene. The FOXP3 gene encodes a DNA-binding protein of the forkhead/winged-helix family and is the central controller of the development of CD4+CD25+ regulatory T cells. CD4+CD25+ regulatory T cells help prevent autoimmune disease; a deficiency of these cells causes increased immunologic reactivity and autoimmunity. We describe a 14-year-old boy with IPEX syndrome confirmed by mutation analysis of the FOXP3 gene. The patient had chronic dermatitis and later developed bullous pemphigoid. He subsequently formed diffuse prurigo nodularis-like lesions resistant to multiple topical and systemic immunosuppressive medications. These lesions were confirmed by biopsy, direct immunofluorescence, and enzyme-linked immunosorbent assay of the 180 kd bullous pemphigoid antigen to be pemphigoid nodularis. He recently responded to rituximab, allowing discontinuation of his oral prednisone.

Fluticasone-associated cutaneous allergic granulomatous vasculitis.

Allergic granulomatous vasculitis, or Churg-Strauss syndrome, is a small-vessel, multisystem vasculitis that can affect the skin, lungs, heart, and nervous system. Recent reports have implicated leukotriene receptor antagonists and inhaled corticosteroids in the development of this rare syndrome. We present a patient with no history of allergic asthma who acutely developed skin-limited Churg-Strauss-like granulomatous vasculitis after initiating therapy with inhaled fluticasone and salmeterol (Advair Diskus).

Radiation-induced morphea occurring after fluoroscopy.

We describe a patient in whom radiation-induced morphea developed after undergoing fluoroscopically guided repair of an abdominal aortic aneurysm.