Unmet Needs in Darier's Disease from a Patient's Perspective: Lessons Learnt from the German Registry.

The MDHHgermany registry was initiated to characterize the "real-life" situation of affected individuals with Darier's disease (DD; Morbus Darier, MD) and Hailey-Hailey disease (HH), including their treatment and healthcare. To gain deeper insights into medical care of patients with DD, various aspects such as demographics, subjective symptoms, patient satisfaction with medical care, past and current therapies were explored. Patients with diagnosed DD were included. Subjective symptoms such as itch, pain and burning sensation were assessed. Individual therapy goals were recorded and patients assessed previous/current therapies along with satisfaction of medical care and treatment. A total of 55 patients were recruited; 47 patients were eligible for the analysis. Pruritus was rated the most bothersome symptom. Some 42.6% had not received systemic treatment so far or systemic therapies were rated ineffective (32.6%). Most commonly oral retinoids were prescribed, followed by corticosteroids. Patient satisfaction with medical care and treatment proved to be mediocre. This "real-life" data show an alarming unmet need regarding patients' satisfaction with medical care and treatment, evidenced by the reported lack of disease control. Further studies and interventions are needed to improve the spectrum of available therapies. MDHHgermany provides a foundational platform for future clinical trials, epidemiological studies, and pathophysiological analyses.

[Clinical, therapeutic and pathophysiological aspects of Darier's disease]. / Aspects physiopathologiques cliniques et thérapeutiques de la maladie de Darier.

Darier Disease is a rare autosomal dominant inherited skin disorder classified as an acantholytic dermatosis. It manifests around puberty as brownish keratotic papules of skin folds and seborrheic areas, associated with onychopathy and mucosal involvementand have a chronic relapsing-remitting course with frequent exacerbations triggered by sun exposure, heat, friction, or infections. Darier patients have an increased risk of neuropsychiatric disorders, type 1 diabetes and heart failure. Short-term management relies on antibiotics/antiviral, topical corticosteroids and/or retinoids. Moisturizers, sun protection and avoiding triggers are essential for long-term management. Conventional long-term treatment is not standardized and many topical treatments, physical and surgical measures and systemic treatments are described in the literature.

La maladie de Darier est une génodermatose rare à transmission autosomique dominante. Elle se manifeste autour de la puberté par des papules kératosiques brunâtres des plis et des zones séborrhéiques, associées à une onychopathie et une atteinte muqueuse, et évolue par poussées déclenchées par les UV, la chaleur, les frottements ou les infections. Les patients atteints présentent un risque accru de diabète de type 1, d'insuffisance cardiaque et de troubles neuropsychiatriques. La prise en charge à court terme consiste en des antibiotiques/antiviraux, des corticostéroïdes topiques et/ou des rétinoïdes. Celle à long terme repose sur les émollients et l'éviction des facteurs déclenchants. Le traitement à long terme n'étant pas codifié, de nombreux traitements locaux et sytémiques, mesures physiques et chirurgicales sont décrits dans la littérature.

Keratosis Pilaris: Treatment Practices of Board-Certified Dermatologists.

Keratosis pilaris (KP) is a chronic disorder of follicular hyperkeratinization and perifollicular erythema with lesions affecting the extensor surfaces of arms, upper legs, and buttocks. While there is some evidence that laser therapies and topical therapies such as lactic acid reduce the follicular papules of KP, support is limited with respect to which topical treatments dermatologists utilize and their perception of efficacy. A 16-question survey was distributed to a random sampling of the ODAC Conference listserv to determine which topical treatments dermatologists utilize the most, the duration of therapy needed with various treatment modalities, and the effectiveness of topical and laser therapy for treating KP. Our study found topical lactic acid is the most used first-line therapy for KP (43.63% of survey respondents), followed by salicylic acid (20.72%). Laser therapy is only utilized by 8.76% of survey respondents, with a lack of insurance coverage and proper equipment limiting its use. KP is often recalcitrant to treatment, and our study demonstrated that over 60% of respondents found recurrence of KP lesions within three months of stopping salicylic acid treatment and OTC moisturizer treatment. The data herein can be used to better utilize the selection of topical and laser therapies for the treatment of KP. J Drugs Dermatol. 2023;22(10):985-989 doi:10.36849/JDD.7534.

Keratosis pilaris: an update and approach to management.

Keratosis pilaris (KP) is a common, hyperkeratotic skin condition characterized by small, folliculocentric papules with variable perifollicular erythema. We provide an updated review on the pathogenesis, clinical manifestations, and management of this common, and often annoying, finding. KP represents a family of follicular disorders, of which KP simplex is by far the most common. Other variants and rare subtypes include keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Inherited mutations of the FLG gene and ABCA12 gene have been implicated etiologically. KP may be associated with ichthyosis vulgaris and palmar hyperlinearity, but less likely atopic dermatitis. Some potential differential diagnoses for KP include lichen spinulosus, phrynoderma, ichthyosis vulgaris, and trichostasis spinulosa. General cutaneous measures such as hydrating skin, avoiding long baths or showers, and using mild soaps or cleansers should be recommended. Topical keratolytic agents are first-line therapy, followed by topical retinoids and corticosteroids. Recent options include a variety of lasers and microdermabrasion if the patient is refractory to topical therapy.

Keratosis pilaris. / Keratosis pilaris.

Keratosis pilaris, or 'plucked chicken skin', is a very common condition. It is caused by keratin accumulation in the hair follicles. Although mild cases of the condition can be considered to be a normal variant, it can lead to multiple appointments with general practitioners and dermatologists. In rare cases, keratosis pilaris can form part of specific syndromes or be associated with other diseases. The aim of this article is to give an overview of the different variants of keratosis pilaris and discuss the pathogenesis and treatment options.

Keratosis Pilaris Treatment: Evidence from Intervention Studies.

Keratosis pilaris is a common dermatosis observed in daily dermatologic practice. The diagnosis is clinical and usually asymptomatic, although sometimes patients may complain of mild pruritus and its cosmetic appearance. Few reports exist about its treatment. There are clinical trials assessing topical treatments and laser surgery, but no systematic reviews on its management were found in literature. An online research was conducted to identify evidence-based recommendations. Lactic acid, salicylic acid, and the 1064-nm Nd:YAG laser seem to be the most effective and safe treatment options for keratosis pilaris among patients aged 12 years and older; however, high-quality randomized controlled trials with long-term outcomes are required. (SKINmed. 2022;20:258-271).

Treatment of keratosis pilaris and its variants: a systematic review.

INTRODUCTION: Keratosis pilaris (KP) is a common, benign skin condition of follicular hyperkeratosis. Although KP is asymptomatic, the cosmetic appearance of KP can lead to psychosocial distress among patients. New emerging treatments are increasingly being utilized. Yet, there is little to no summative data on the treatments of KP and its subtypes. OBJECTIVE: To summarize existing literature on treatments for KP and its subtypes. METHODS: A comprehensive search was performed using Pubmed/MEDLINE, Embase and Web of Science databases. The search identified 1150 non-duplicated articles, and 47 articles were included in the review. The primary outcomes measured were KP treatment type and the degree of improvement following therapy. FINDINGS: Our findings demonstrate that the most supported form of treatment for KP is laser therapy, particularly the QS:Nd YAG laser. Topical treatments - including Mineral Oil-Hydrophil Petrolat, tacrolimus, azelaic acid, and salicylic acid - are also effective at least for improving the appearance of KP. CONCLUSION: While the measured treatment outcomes varied among studies, laser therapy appears to be the most effective form of treatment. Use of topicals also improved KP lesions.

New skin papules.

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

Management of Darier disease: A review of the literature and update.

Darier disease (DD) is a rare type of inherited keratinizing disorder with no definitive therapeutic approach. The objective of this study is to provide a detailed literature review of all the available treatment modalities of Darier disease, including those that are both surgical and non surgical, to compare their efficacies and to propose a novel therapeutic approach. A complete search of the literature for all articles describing the different treatments of Darier disease, with no restrictions on patients' ages, gender or nationalities, was performed with the use of PubMed. A total of 68 articles were included in the study: 3 prospective studies, 44 case reports/case series and 21 letters/correspondences/clinical images. The treatments described were topical, oral or physical. Retinoids (isotretinoin, tazarotene and adapalene) and fluorouracil were the two most effective topical treatments. Oral retinoids were the most effective oral therapy and were prescribed in the cases of generalized Darier disease. For localized and resistant skin lesions, physical therapies including surgical excision, dermabrasion and CO2 laser ablation were the first line choices. Limitations of this article include the inability to verify the accuracy of the published data, the relatively small sample size, the absence of randomized controlled clinical trials and possible unidentified confounding factors in various studies. In every therapeutic approach to Darier disease, consideration of patient comorbidities, disease distribution, severity and treatment accessibility is essential. Large and randomized clinical trials are necessary for the comparison of the efficacy and the safety of all the treatments of Darier disease and settling a consensus for management.

The Use of Allograft Skin for the Treatment of Darier Disease.

Darier disease is an autosomal dominant skin disorder characterized by keratotic papules. After their appearance, these lesions tend to grow over time, producing large and exudative plaques that compromise the general condition of the affected patient's skin. The authors report the clinical case of a patient affected by Darier disease with superinfected de-epithelialized areas over 30% of his body. In addition to antibiotic and antifungal therapy, providers used allograft skin to cover the injured areas and stimulate their progressive re-epithelialization with complete healing after 2 months. To the authors' knowledge, this is the first clinical case of treating Darier disease with allograft skin on an extensively damaged area. The effectiveness of this treatment may lead clinicians to consider allograft skin tissue a new, alternative dressing to treat Darier disease when this pathologic condition manifests with extensive eroded skin.

Light and Laser Treatments for Keratosis Pilaris: A Systematic Review.

BACKGROUND: Keratosis pilaris (KP) is a common hereditary keratinization disorder. Keratosis pilaris rubra and KP atrophicans faciei are less frequent variants of the disease. Topical treatments often yield ineffective and temporary results. OBJECTIVE: The objective of this article is to review and assess all the studies that used light and laser devices to treat KP and its variants. MATERIAL AND METHODS: On January 15, 2017, an online search of the MEDLINE, Embase, and Cochrane databases was performed using the following combination of keywords: "keratosis pilaris" and "treatment." RESULTS: Seventeen studies related to light and laser treatments were retained for analysis. The total number of treated patients was 175. Of which, 22 patients had KP atrophicans faciei, 17 patients had KP rubra, and 136 patients had KP. CONCLUSION: Light and laser devices have been emerging as promising therapeutic options for a disfiguring disease that still lacks, until today, an effective long-term treatment.

Ayurveda management of keratosis pilaris - a case report.

OBJECTIVES: Keratosis pilaris (KP) is the condition of the skin with extensive keratin follicular plugging. It may be associated with the erythema. The upper arm extensor area, shoulders, back of neck and thighs, as well as face and the upper trunk are the areas of presentation. Available medications for KP give only symptomatic relief, while some produce serious side effects. There is no proven universal treatment for the disease that can provide complete recovery. Ayurveda management of KP is not yet reported. CASE PRESENTATION: A 26-year-old male patient, presented with main complaints started with papular lesions over his right shoulder, chest and upper back along and later with pustular lesions in the past 2 weeks. The condition was associated with redness, mild swelling and itching. The case was diagnosed as Keratosis pilaris based on its presentation, site, and pathogenesis. Also by analyzing the extent of vitiation of dosas (morbidities), the Vata kapha pitta hara line of treatment was adopted, which was accomplished in two phases i. e. Sodhana Cikitsa and Samana Cikitsa. CONCLUSION: Both internal and external treatments along with diet restrictions were found effective in arresting the pathogenesis and recovery in a short period. All the symptoms associated with the condition were completely cured with no signs of re-occurrence.

A case of severe refractory Darier's disease of the feet in which management with carbon dioxide (CO2) laser therapy demonstrated superior outcomes to surgical excision.

Darier's disease is a rare genodermatosis typically characterized by scaly or crusted papules. Usual management comprises topical and oral treatments, however medical therapy may be inadequate in cases of severe disease. For these patients, further treatment options may include the use of carbon dioxide (CO2) laser therapy or surgical excision with skin grafting. We describe a unique situation in which both CO2 laser therapy and surgical excision were trialed in comparable areas within a single patient. Superior outcomes over a 7-year follow up period have been seen with the use of CO2 laser therapy.

Queratosis folicular invertida del conducto auditivo externo: Una patología benigna poco frecuente y de localización inusual / INVERTED FOLLICULAR KERATOSIS OF THE EXTERNAL AUDITORY CANAL

La queratosis folicular invertida es una neoplasia benigna poco frecuente originada en el epitelio folicular a nivel del infundíbulo. Si bien no posee una clínica característica ni patognomónica, suele presentarse como una lesión solitaria, asintomática, de crecimiento lento, en la cara. El diagnóstico de certeza se realiza con el estudio histopatológico, que evidencia una proliferación de células basaloides y de células escamosas queratósicas con remolinos escamosos, que se extienden a la dermis. El tratamiento de elección es la extirpación quirúrgica, con buen pronóstico y escasa tendencia a la recurrencia. La localización en conducto auditivo externo es extremadamente infrecuente (en la literatura revisada hemos encontrado sólo tres casos comunicados) y representa un desafío tanto diagnóstico como terapéutico. Se presenta un paciente con una queratosis folicular invertida localizada en conducto auditivo externo izquierdo de 5 años de evolución que comprometía significativamente su calidad de vida por la sintomatología (dolor, otorrea, hipoacusia) y que evolucionó satisfactoriamente con el tratamiento instaurado (extirpación quirúrgica y posterior topicación de la zona con ácido tricloroacético 50%)

Inverted follicular keratosis is a rare benign neoplasm originating from the infundibulum of the follicular epithelium. Although it does not have a characteristic or pathognomonic clinic, it usually presents as a solitary, asymptomatic, slow-growing lesion on the face. The certain diagnosis is made with the histopathological study, which shows a proliferation of basaloid cells and squamous keratotic cells with squamous eddies, which extend to the dermis. The treatment of choice is surgical removal, with a good prognosis and little tendency to recur. Localization in the external auditory canal is extremely rare (in the reviewed literature we have found only three reported cases) and represents both a diagnostic and therapeutic challenge. We present a patient with an inverted follicular keratosis located in the left external auditory canal of 5 years of evolution that significantly compromised his quality of life due to the symptoms (pain, otorrhea, hearing loss) and that evolved satisfactorily with the established treatment (surgical excision and subsequent topication of the area with 50% trichloroacetic acid).

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.