Darier disease, radiation therapy, and herpesvirus -- an unfortunate triad.

Darier disease (DD) is a rare autosomal dominant keratinizing disorder often characterized by brown scaly pruritic papules over the face, neck, and trunk. Herein is reported a patient who developed secondary cutaneous herpes simplex virus (HSV) following exacerbation of his DD as a result of radiation therapy. In November 2020, a 78-year-old man presented to clinic for a pruritic rash on his back consistent with DD. He had developed the rash after the conclusion of chemoradiation therapy for recently diagnosed urothelial carcinoma of the bladder with squamous differentiation. However, he returned two weeks later complaining of a marked worsening of the rash associated with a pain and burning sensations. Histopathology was non-conclusive, but the lesions were found to be positive for HSV-1 by PCR. The patient recovered without complication over a period of two weeks following a course of valacyclovir. There is precedent in the literature for ionizing radiation inducing flares of DD lesions in overlying skin. In addition, DD has been shown to put a patient at increased risk for secondary infections such as HSV. This case report demonstrates that HSV could pose a significant risk to those with DD receiving radiation therapy and thus could warrant prophylactic treatment.

New skin papules.

The location of the patient's lesions, as well as her underlying conditions, pointed to the diagnosis.

Acquired Darier disease in a patient with metastatic prostate cancer: a paraneoplastic process?

Darier disease is considered a hereditary acantholytic dermatosis that is inherited in an autosomal dominant manner and usually manifests in the first or second decade of life. We describe a 62-year-old man with an acquired variant of Darier disease after a recent diagnosis of metastatic prostate cancer. We discuss and postulate a novel mechanism for this unusual presentation.

Erupción variceliforme de Kaposi y enfermedad de Darier / Kaposi's varicelliform rash and Darier's disease

La erupción variceliforme de Kaposi es una infección cutánea diseminada, causada en la mayor parte de los casos por el virus Herpes simple tipo 1. Se suele presentar en pacientes con alteraciones preexistentes de la barrera cutánea, especialmente en niños con dermatitis atópica. Se comunica el caso de un paciente de 84 años, quien negaba enfermedades cutáneas previas, que consultó por lesiones dolorosas y pruriginosas, en la piel del tórax y el abdomen, de 3 semanas de evolución. Con sospecha de una enfermedad infecciosa viral, bacteriana, ampollar o neutrofílica, se realizó inmunofluorescencia directa para herpes, cultivo y biopsia de piel para estudio histológico. La inmunofluorescencia fue positiva para Herpes simple tipo 1 y el estudio histopatológico mostró cambios compatibles con infección herpética y enfermedad de Darier. La enfermedad de Darier es una genodermatosis infrecuente que se suele manifestar en la adolescencia. Si bien su diagnóstico en la ancianidad es excepcional, este caso ilustra que se debe considerar en todos los pacientes que presenten erupción variceliforme. (AU)

Kaposi's varicelliform rash is a disseminated cutaneous infection, caused by Herpes virus 1. It usually presents in patients with pre-existing skin barrier disorders, especially in children with atopic dermatitis. We report the case of an 84-year-old patient, who reported having no previous skin diseases, who consulted for painful, itchy, 3-week-old skin lesions. As we suspected viral, bacterial, bullous or neutrophilic disease, direct immunofluorescence, culture, and skin biopsy for histological study were performed. Immunofluorescence was positive for Herpes simplex type 1 and the histopathological study showed changes compatible with herpetic infection and Darier's disease. Darier's disease is a rare genodermatosis that usually manifests in adolescence. Although its diagnosis in old age is anecdotal, it should be considered in patients with a varicelliform rash. (AU)

Kyrle's disease associated with HIV infection, diabetes, and chronic kidney disease.

Kyrle's disease (KD) is a rare skin pathology characterized by transepidermal elimination of abnormal keratin. The aim of this article is to report a rare case of KD associated with diabetes mellitus, chronic kidney disease, and HIV. A 51-year-old male patient complained of diarrhea for 8 months. He was submitted to HIV testing, which showed a positive result. He started antiretroviral therapy with zidovudine, lamivudine, and lopinavir. The diagnostic investigation was negative for opportunistic diseases. After 2 months, skin lesions started appearing, characterized by hyperchromic, pruritic macules and papules distributed in the trunk, back, and upper limbs. He also developed erythematous, scaly lesions in the facial region. A biopsy of the skin was performed, of which histopathological report consisted of perforating disorder, favoring a diagnosis of KD. Treatment with keratolytic soap (Actine) was started, with skin lesion improvement. In this reported case, it is possible that, in addition to diabetes and renal failure, HIV infection played an important role in the genesis of the lesions.

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.

Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.

Acral Hemorrhagic Darier Disease. / Enfermedad de Darier acral hemorrágica.

Darier disease is an autosomal-dominant inherited condition caused by mutation of a gene, which produces a protein involved in calcium channel regulation. The disease has a variety of manifestations and lacks consistent genotype-phenotype correlations. Acral hemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Other classic signs of the disease may be present in the same patient or relatives. Histopathology reveals dyskeratosis and suprabasal acantholysis with hemorrhagic lacunae. We report 3 new cases of this type of Darier disease triggered by injuries. Response to retinoid therapy was good.

Kyrle's Disease: A Rare Skin Manifestation of Diabetes Mellitus.

Kyrle's disease is a rare skin disorder which is characterized by hyperkeratotic papules and nodules with a central keratotic plug mostly located in lower limbs. Exact etiology of Kyrle's disease is unknown, but its association has been reported sparsely with renal disorders, uremic patients on dialysis, diabetes mellitus, liver disease and paraneoplastic syndromes, tuberculosis and some fungal diseases. We report Kyrle's disease in a middle aged female suffering from diabetes mellitus with diabetic nephropathy on hemodialysis.

Kyrle Disease A Rare Dermatologic Condition Associated with the Diabetic Foot.

We report two cases of biopsy-confirmed Kyrle disease. Kyrle disease is one of the perforating dermatoses associated with diabetic patients undergoing renal dialysis. In this report, we describe the clinical and histopathologic features, the differential diagnoses, and successful treatment of this unusual disorder.

A case of new onset keratosis pilaris after discontinuation of erlotinib.

IMPORTANCE: Keratosis pilaris and keratosis pilaris-like eruptions have been reported in association with RAF inhibitors sorafenib and vemurafenib. We describe herein what is to our knowledge the first reported case of new onset keratosis pilaris after discontinuation of EGFR inhibitor erlotinib. OBSERVATIONS: A 60 year-old female with stage IV lung cancer was treated with erlotinib (100 mg/d). The patient elected to discontinue erlotinib after four years secondary to adverse systemic reactions. However, five months later small, monomorphic, rough, folliculocentric papules with surrounding mild erythema characteristic of keratosis pilaris were noted on upper back and arms. CONCLUSIONS AND RELEVANCE: This serves as the first documented case of new onset keratosis pilaris in a patient after discontinuation of erlotinib. We report the present case to show the possible association of keratosis pilaris with not only RAF inhibitors, but also the EGFR inhibitor erlotinib. Further investigation will determine whether this is a class effect with other systemic EGFR inhibitors.

Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

BACKGROUND: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. OBJECTIVE: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. METHODS: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. RESULTS: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. CONCLUSIONS: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Two cases of keratosis follicularis squamosa (Dohi) caused by swimsuit friction.

Keratosis follicularis squamosa (KFS) is a keratinizing disorder that is characterized by asymptomatic small scaly patches with follicular plugs scattered on the trunk and thighs. Irritation by clothing, bacterial infections, heredity and hormone imbalances have all been proposed as pathogenic factors. Case 1 involved an 11-year-old Japanese female who presented with a 1-year history of small patches on the lateral chest. She had been attending swimming classes for seven years. A histological examination showed dilated hair follicles with keratotic plugs. A bacterial culture of the lesion detected Staphylococcus auricularis. Case 2 involved a 5-year-old Japanese female who presented with a 1-year history of eruptions on the lateral trunk. The eruptions appeared after she began to attend swimming classes. The physical and histological findings of Case 2 were similar to those of Case 1. A bacterial culture test detected Staphylococcus capitis. Both cases were diagnosed as KFS. The patient in Case 1 changed her swimsuit and was treated with 50 mg of oral minocycline daily. The patient in Case 2 stopped attending swimming classes without receiving any treatment. The skin lesions in both cases completely disappeared within a few months. The clinical courses of these patients suggest that swimsuit friction was the cause of KFS.

Successful treatment of combination therapy with tacalcitol lotion associated with sunscreen for localized Darier's disease.

We herein report a sporadic case of Darier's disease localized to the bilateral side of the neck in a 39-year-old Japanese woman. Several clinical variants of Darier's disease have so far been recognized including unilateral Darier's disease, localized Darier's disease, segmental Darier's disease and acral Darier's disease. Few cases of Darier's disease, restricted to sun-exposed areas such as the bilateral side of the neck, have been described in the published work. It remains controversial, however, whether ultraviolet exposure can induce the onset of Darier's disease. Our patient's skin lesions, which were resistant to previous treatment with corticosteroid, improved substantially with high-concentration tacalcitol lotion and sunscreen. This is the first report on the efficacy of topical tacalcitol lotion associated with sunscreen for the treatment of localized Darier's disease.

Segmental Darier's disease postpartum and following tubal ligation.

Segmental Darier's disease is a rare clinical variant of autosomal dominant Darier's disease (keratosis follicularis) exhibiting eruptions in a unilateral arrangement following the lines of Blaschko. It occurs in approximately 10% of patients with Darier's disease. We report two cases of type 1 segmental Darier's disease that appeared a few months after childbirth; in one case, recurrence of the disease occurred after tubal ligation.