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1.
J Med Case Rep ; 18(1): 431, 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39285486

ABSTRACT

BACKGROUND: Tinea versicolor is a very common condition. We reported a specific follicular manifestation and proposed that this particular presentation might be related to the patient's history of previous keratosis pilaris. CASE PRESENTATION: A 46-year-old Asian woman of Han ethnicity presented to the clinic with trunk lesions for over a year. On physical examination: multiple light brown patches of varying size centered on hair follicles in the axillae and trunk, with the patches on the back fusing together and scales visible on the surface of the patches. Finally, through fungal microscopy and pathological examination, the patient was diagnosed with folliculocentric tinea versicolor. CONCLUSIONS: Follicular tinea versicolor is a rare type of tinea versicolor. It is still not clear what causes tinea versicolor to become folliculocentric. This case may suggest that patients with a history of keratosis pilaris may have a tendency to develop follicular centration in the course of other diseases.


Subject(s)
Tinea Versicolor , Humans , Female , Middle Aged , Tinea Versicolor/diagnosis , Tinea Versicolor/drug therapy , Antifungal Agents/therapeutic use , Hair Follicle/pathology , Darier Disease/diagnosis , Darier Disease/pathology , Abnormalities, Multiple , Eyebrows/abnormalities
2.
J Cosmet Dermatol ; 23(9): 2895-2904, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38943266

ABSTRACT

OBJECTIVE: To assess the effectiveness and safety of treating erythematotelangiectatic rosacea using fractional radiofrequency (FRF). METHODS: Twenty patients with a confirmed diagnosis of erythema capillaris rosacea were selected, and one side of each patient's face was randomly assigned to receive FRF treatments for three to six times, with an interval of 2 weeks between each treatment. VISIA, dermoscopy, and the Clinician's Erythema Evaluation Scale (CEA) were applied to evaluate the efficacy of the treatment before and after the treatment, to record the VAS scores and adverse reactions, and to conduct a patient satisfaction survey. RESULTS: The characteristic counts and scores of red zone and porphyrin as assessed by VISIA test were significantly decreased, and the difference between the treated side and the pretreatment side was statistically significant (p < 0.05), and the efficacy of the treatment was statistically insignificant compared with the control side, except for the red zone and porphyrin which were statistically significant before and after the treatment (p > 0.05). By CEA score, the difference between the treated side after treatment and the control side was statistically significant (p < 0.05), and the difference between the treated side before and after treatment was statistically significant (p < 0.05); the difference between the control side before and after treatment was not statistically significant (p > 0.05). Dermatoscopic observation showed reduction in pore size, reduction of yellowish-white and black horn plugs within the pores, lightening of the red background and thinning and blurring of the capillary structure on the treated side of the skin compared to the control side, and the skin on the treated side showed the above mentioned changes before and after the treatment as well. The mean pain score of the subjects was obtained by VAS score 3.67 ± 0.90. Adverse effects included mild edema, erythema, and microscopic crusting; no long-term adverse effects were seen in all patients. The efficacy of FRF treatment was evaluated 1 month after the final treatment, and 85% of the subjects rated it as satisfactory, very satisfactory, and very satisfactory. CONCLUSION: FRF for the treatment of erythematous capillary dilatation rosacea is effective, safe, and suitable for clinical promotion.


Subject(s)
Patient Satisfaction , Rosacea , Humans , Rosacea/therapy , Rosacea/diagnosis , Rosacea/radiotherapy , Female , Adult , Middle Aged , Treatment Outcome , Male , Radiofrequency Therapy/adverse effects , Radiofrequency Therapy/methods , Dermoscopy , Erythema/etiology , Erythema/therapy , Telangiectasis/therapy , Telangiectasis/radiotherapy , Telangiectasis/diagnostic imaging , Young Adult , Severity of Illness Index , Face , Skin/radiation effects , Skin/pathology , Skin/diagnostic imaging , Skin/blood supply , Abnormalities, Multiple , Eyebrows/abnormalities , Darier Disease
3.
JAMA Dermatol ; 160(6): 682-685, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38717752

ABSTRACT

This case series describes a constellation of novel adverse reactions in 3 of 9 patients with uveal melanoma receiving treatment targeting activity of the Brahma-associated factor chromatin remodeling complex.


Subject(s)
Melanoma , Uveal Neoplasms , Humans , Melanoma/pathology , Uveal Neoplasms/pathology , Uveal Neoplasms/genetics , Darier Disease/diagnosis , Darier Disease/pathology , Eyebrows/abnormalities , Chromatin Assembly and Disassembly , Male , Female , Middle Aged , Transcription Factors/genetics , Abnormalities, Multiple
4.
J Eur Acad Dermatol Venereol ; 38(9): 1818-1827, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38595321

ABSTRACT

BACKGROUND: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. OBJECTIVES: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations. METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). CONCLUSIONS AND RELEVANCE: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.


Subject(s)
Costello Syndrome , Proto-Oncogene Proteins p21(ras) , Humans , Costello Syndrome/genetics , Costello Syndrome/complications , Prospective Studies , Female , Male , Child , Proto-Oncogene Proteins p21(ras)/genetics , Adolescent , Child, Preschool , Adult , Young Adult , Ectodermal Dysplasia/genetics , Noonan Syndrome/genetics , Noonan Syndrome/complications , Acanthosis Nigricans/genetics , Diagnosis, Differential , Keratoderma, Palmoplantar/genetics , Heart Defects, Congenital/genetics , Heart Defects, Congenital/complications , Phenotype , Papilloma/genetics , Papilloma/pathology , Acitretin/therapeutic use , Eyebrows/abnormalities , Eyebrows/pathology , Failure to Thrive/genetics , Failure to Thrive/etiology , Infant , Keratolytic Agents/therapeutic use , Facies
5.
Clin Exp Dermatol ; 49(10): 1105-1117, 2024 Sep 18.
Article in English | MEDLINE | ID: mdl-38447098

ABSTRACT

This review aims to present a comprehensive synthesis of the existing treatment modalities for keratosis pilaris (KP) and evaluate their therapeutic efficacy. KP is a prevalent chronic dermatological condition typified by its unique 'chicken skin appearance', with the cheeks being the most commonly involved sites. Numerous therapeutic interventions have emerged, given its substantial prevalence and impact on skin aesthetics and psychological wellbeing. Nonetheless, a consistent therapeutic response has been challenging to achieve. This review endeavours to collate and critically appraise the current treatment landscape for KP. An exhaustive literature search was performed using databases such as Ovid, PubMed and Scopus. From an initial count of 459 articles identified after deduplication, 52 were selected for inclusion after a thorough full-text examination for articles with concrete outcome data highlighting the efficacies of different therapeutic modalities; articles that lacked data or were tangential to the core focus on KP treatment were excluded. The included articles were then catalogued based on the nature of treatment strategies and their respective outcomes. Among the various therapeutic interventions, laser and light modalities appear to be supported by the most substantial evidence base. Notably, the Nd:YAG (neodymium-doped yttrium-aluminium-garnet) laser, attributed to its longer wavelength, emerged as a preferred option. While other therapeutic avenues have also exhibited notable improvements in skin texture and discolouration relative to baseline, the inconsistency in outcome measures underscores the need for a standardized, KP-specific scoring system to foster a more coherent comparison across treatments. Based on the current evidence, Nd:YAG laser therapy demonstrates promising effectiveness with a relatively favourable side-effect profile. However, the landscape of KP treatment is multifaceted, and further studies are essential to solidify recommendations.


Subject(s)
Darier Disease , Eyebrows , Humans , Eyebrows/abnormalities , Darier Disease/therapy , Darier Disease/pathology , Darier Disease/diagnosis , Skin Abnormalities/therapy , Skin Abnormalities/pathology , Abnormalities, Multiple/therapy , Treatment Outcome , Lasers, Solid-State/therapeutic use , Phototherapy/methods , Laser Therapy/methods
7.
J Drugs Dermatol ; 23(1): 1274-1277, 2024 Jan 01.
Article in English | MEDLINE | ID: mdl-38206153

ABSTRACT

BACKGROUND: Keratosis pilaris (KP) is a benign dermatosis consisting of folliculocentric keratotic papules or pustules with surrounding erythema, often on proximal extensor surfaces of extremities. Management strategies for KP largely center on moisturization and exfoliation. Urea, a well-established ingredient in topical skincare, is a component of the natural moisturizing factors with concentration-dependent humectant, emollient, and exfoliative properties.  Given the overlap of urea’s properties and management goals of KP, a 4-week, open-label, noncomparative clinical study was conducted to evaluate a moisturizing cream formulated with 20% urea for use in KP.  Thirty participants aged 18 to 65 years with KP completed this study. After a 5-day washout period, study participants applied a 20% urea cream once daily to areas of KP for 4 weeks. At baseline, 1-week, and 4-week visits, clinical grading of skin texture, adverse event monitoring, and participant satisfaction questionnaires were conducted. After 1 week and 4 weeks of product use, the percent change in skin smoothness/texture from baseline was significant (P≤0.001). Furthermore, after 4 weeks of use, the majority of participants indicated satisfaction with the feel of their skin, as well as improved confidence and decreased embarrassment related to their skin. No significant adverse events were reported. Overall, the results of this study support that 20% urea cream is generally well tolerated and suitable for use in treating KP. J Drugs Dermatol. 2024;23(1):1274-1277.     doi:10.36849/JDD.7806.


Subject(s)
Abnormalities, Multiple , Darier Disease , Eyebrows , Humans , Emollients , Emotions , Excipients , Eyebrows/abnormalities , Skin
8.
Acta Dermatovenerol Croat ; 31(3): 160-161, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38439730

ABSTRACT

A 39-year-old Caucasian woman affected by Noonan Syndrome (NS) mutated in RAF1 was referred to us with itchy lesions on her limbs that had appeared two months earlier. Clinically, there were multiple umbilicated papules with a hyperkeratotic central plug, localized on the upper and lower limbs (Figure 1, a-b). The patient had no personal history of diabetes mellitus or chronic renal failure, but suffered from hypertrophic cardiomyopathy. Blood tests showed no abnormalities. On histological examination of a skin lesion, an ectatic hair follicle with a hyperkeratotic ostium was observed with fragments of hair, inflammatory cells, and epidermal perforation. A final diagnosis of Kyrle disease (KD) was established. The patient underwent narrowband UVB (NB-UVB) phototherapy with residual atrophic scars (Figure 1, c-d), but with a complete and long-lasting resolution of symptoms. KD belongs to perforating dermatoses (PD), a heterogeneous group of skin diseases characterized by the transepidermal elimination of dermal components. Despite the classification of PD still being under debate, four primary forms are traditionally recognized: reactive perforating collagenosis, elastosis perforans serpiginosum, perforating folliculitis, and KD (1). The typical skin manifestation of KD is an eruption of dome-shaped papules and nodules, with a whitish central keratotic plug, mainly localized on the extremities and the buttocks. Described by Kyrle in 1916, KD is frequently associated with systemic diseases, especially chronic renal failure and diabetes mellitus. Other associated conditions include chronic hepatic disease, internal malignancies, and congestive heart disease (1). Despite the absence of a consensus, the control of the underlying disease remains the first therapeutic target. Both topical (keratolytics, retinoids, and corticosteroids) and systemic treatments (corticosteroids, retinoids, antibiotics, and phototherapy) have been reported to control skin manifestations (2). In our experience, NB-UVB is an effective option as first-line therapy in case of diffuse lesions, both in KD and in other PD (3). NS is a relatively common RASopathy, a heterogenous group of genetic diseases characterized by a defect of the Ras-mitogen-activated protein kinase (Ras-MAPK) pathway, with an estimated prevalence of 1/1000-2500. PTPN11 is the most frequent mutated gene, accounting for 50% of cases, but more than ten genes have been identified as causing NS (4). Classical features include a distinctive facial dysmorphism, short stature, pulmonic stenosis, and other anomalies of different organs. The skin is commonly involved. Keratinization disorders and hair abnormalities such as keratosis pilaris, ulerythema ophryogenes, wavy or curly hair, and scarce scalp hair, are often described. Other cutaneous signs include easy bruising, skin hyperlaxity, multiple lentigines, and café-au-lait spots (5). To the best of our knowledge, no cases of KD in patients with NS have been previously reported to date. The exact etiopathogenesis of KD is not clear, but it has been hypothesized that systemic diseases, such as diabetes and chronic renal failure, can cause a deposit of substances or dermis alterations, which triggers the inflammatory process with subsequent transepidermal extrusion (1). In our patient, we ruled out all the causes commonly associated with KD. It is however possible that this manifestation could be a direct result of the patient's illness. Our patient suffered from diffuse keratosis pilaris, and an abnormal epidermal keratinization with a secondary inflammatory dermic response is among the suggested possible pathogenetic mechanisms of KD (1). On the other hand, the hyperlaxity and fragility of the skin typical of NS suggest the presence of altered connective tissue, which could trigger an abnormal keratinization and, subsequently, the transepidermal extrusion, as well as perforating elastosis, which is associated with genetic connective tissue diseases (1). Moreover, our patient suffered from a cardiac disease, another condition associated with KD (5). Although these explanations have their appeal, there is currently insufficient evidence of a link between KD and NS, and it will be necessary to collect additional data to confirm this hypothesis.


Subject(s)
Abnormalities, Multiple , Darier Disease , Diabetes Mellitus , Eyebrows/abnormalities , Kidney Failure, Chronic , Noonan Syndrome , Female , Humans , Adult , Noonan Syndrome/complications , Noonan Syndrome/diagnosis , Noonan Syndrome/therapy , Adrenal Cortex Hormones , Retinoids
9.
Rom J Ophthalmol ; 66(2): 158-163, 2022.
Article in English | MEDLINE | ID: mdl-35935090

ABSTRACT

Objective: To present a case of secondary type 2 choroidal neovascularization (CNV) and exudative maculopathy in a patient with Grönblad-Strandberg syndrome. Methods: A 37-year-old male was admitted with bilateral progressive painless visual acuity loss and metamorphopsias. A thorough ophthalmologic and clinical examination was performed. Results: Best-corrected visual acuity (BCVA) on presentation was 20/ 200 OD (Oculus Dexter) and 20/ 60 OS (Oculus Sinister). Fundus examination revealed angioid streaks and subretinal hemorrhages on OU (Oculus Uterque), macular fibrosis on OD and "peau d'orange" pigmentary mottling on OS. Leakage areas on fundus fluorescein angiography (FFA) revealed active CNV on OU, which was confirmed by Optical Coherence Tomography (OCT). The presence of typical "plucked chicken" skin lesions in the latero-cervical area and their biopsy confirmed the diagnosis of Pseudoxanthoma elasticum (PXE). Consequently, the diagnosis of Grönblad-Strandberg syndrome was established. Conclusions: Every new diagnosis of angioid streaks entails not only a thorough ophthalmologic evaluation for secondary sight-threatening complications, but also a multidisciplinary evaluation due to the possibility of severe underlying systemic disease. Abbreviations: BM = Bruch's membrane, RPE = Retinal Pigmented Epithelium, PXE = Pseudoxanthoma Elasticum, ABCC6 = ATP binding cassette subtype C number 6, CNV = Choroidal Neovascularization, BCVA = Best-Corrected Visual Acuity, OD = Oculus Dexter, OS = Oculus Sinister, OU = Oculus Uterque, FFA = Fundus Fluorescein Angiography, OCT = Optical Coherence Tomography, IPO = Intraocular Pressure, ECG = Electrocardiogram, anti-VEGF = anti-vascular endothelial growth factor.


Subject(s)
Angioid Streaks , Choroidal Neovascularization , Pseudoxanthoma Elasticum , Abnormalities, Multiple , Choroidal Neovascularization/diagnosis , Darier Disease , Eyebrows/abnormalities , Fluorescein Angiography , Humans , Male , Tomography, Optical Coherence
10.
Dermatol Surg ; 48(8): 838-842, 2022 08 01.
Article in English | MEDLINE | ID: mdl-35917264

ABSTRACT

BACKGROUND: Keratosis pilaris (KP) is a common disorder of keratinization with different therapeutic modalities; however, none of them is completely satisfactory. OBJECTIVE: Assess and compare the efficacy of trichloroacetic acid (TCA) 20% and long-pulsed 1,064-nm Nd:YAG laser in the treatment of KP. MATERIALS AND METHODS: Twenty patients with symmetrically distributed areas of KP were enrolled in this study. In each patient, 2 symmetrical KP areas were randomly assigned to receive 4 sessions of either long-pulsed Nd:YAG laser or TCA 20%. Clinical evaluation by Investigator Global Assessment (IGA) was done by 2 blinded physicians after treatment. Dermoscopic assessment was done at baseline and at the end point of the study. RESULTS: Investigator Global Assessment of laser-treated area showed that 2 patients (10%) had moderate improvement, 10 patients (50%) had marked improvement, and 8 patients (40%) had excellent improvement. Investigator Global Assessment of TCA-treated area showed that 9 patients (45%) had marked improvement and 11 patients (55%) had excellent improvement. Dermoscopic score of KP showed a significant reduction with both modalities. The IGA and reduction in dermoscopic scores were comparable between the 2 modalities. CONCLUSION: Both long-pulsed 1,064-nm Nd:YAG laser and 20% TCA are effective in the treatment of KP. CLINICAL TRIAL REGISTRATION: Name of the trial register: clinicaltrial.gov . Registration number: NCT04797663.


Subject(s)
Lasers, Solid-State , Abnormalities, Multiple , Darier Disease , Eyebrows/abnormalities , Humans , Immunoglobulin A , Lasers, Solid-State/therapeutic use , Treatment Outcome , Trichloroacetic Acid/therapeutic use
11.
Skinmed ; 20(4): 258-271, 2022.
Article in English | MEDLINE | ID: mdl-35976015

ABSTRACT

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).


Subject(s)
Abnormalities, Multiple , Darier Disease , Lasers, Solid-State , Darier Disease/diagnosis , Darier Disease/therapy , Eyebrows/abnormalities , Humans , Lasers, Solid-State/therapeutic use , Treatment Outcome
12.
J Cosmet Dermatol ; 21(9): 3809-3813, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35770308

ABSTRACT

BACKGROUND: Keratosis pilaris is a common keratinization disorder of the extensor surfaces of the proximal extremities. Various treatment modalities reduce symptoms, but their efficacy is limited. AIMS: The aim of this study is to compare the efficiency of Q-Switched Nd: YAG laser and fractional Er: YAG laser. MATERIAL/METHOD: The lesions in both arms were randomly divided into areas A and B. Fractional Er: YAG 2940 nm laser performed to area A 1.5 J/cm2 , spot size 7 mm, frequency 3 Hz and three passes and Q-Switched Nd: YAG 1064 nm laser performed to Area B, 4-6 J/cm2 spot size 4 mm, 8 Hz frequency, and as a single pass. Both lasers were performed in 4 sessions at 3-week intervals. The global improvement scale evaluated treatment responses in dyspigmentation and skin texture. RESULTS: Twenty patients completed the study, and the mean age of a total of 20 patients was 22.9. There was no significant difference in dyspigmentation and skin texture with global improvement scale between Area A and Area B, respectively (p = 0.078, p = 0.638). In addition, there was no significant difference between patient satisfaction levels after treatment in Area A and Area B (p = 0.868). CONCLUSION: The efficiency of the fractional Er: YAG 2940 nm laser was found equal to the Q-switched Nd: YAG 1064 nm laser. Fractional Er: YAG 2940 nm laser may be a new treatment option in the treatment of keratosis pilaris.


Subject(s)
Abnormalities, Multiple , Darier Disease , Lasers, Solid-State , Pigmentation Disorders , Eyebrows/abnormalities , Humans , Lasers, Solid-State/therapeutic use , Treatment Outcome
13.
J Cosmet Dermatol ; 21(9): 3814-3816, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35569135

ABSTRACT

OBJECTIVE: Keratosis pilaris rubra (KPR) is a rare group of idiopathic hereditary disorders of keratinization, and it is considered as variants of keratosis pilaris. It is characterized by a well-defined erythema and small, keratotic follicular papules that are seen on the cheeks and preauricular area. Keratosis pilaris rubra is an aesthetically distressed situation, and especially vascular erythema is the most common complaint. In recent years, pro-yellow (577 nm) laser, laser system with yellow light wavelength, has been used as an alternative for seeking more effective treatment especially in vascular lesions. However, in the literature, pro-yellow laser therapy has never been used before in keratosis pilaris rubra. Therefore, we wanted to evaluate the effectiveness of the pro-yellow laser in keratosis pilaris rubra patients. MATERIALS AND METHODS: In our study, four patients with keratosis pilaris rubra treated with pro-yellow laser in our Cosmetology Unit between December 2017 and March 2019 were evaluated. The first session was started with 20 j/cm2 and the dose increased 2 j/cm2 at each session. The dose was increased up to 26 j/cm2 , a total of four sessions (20-22-24-26 j/cm2 ) was applied in treatment. All the sessions were used in treatment scanner mode. RESULTS: Objectifying a clearance of erythema >75% was clinically evident in three patients, in the fourth patient, erythema regressed approximately 50%. There has been no recurrence of the lesions after a minimum three months follow-up. There was no permanent side effect in any patient. CONCLUSION: Pro-yellow laser is a well option for the treatment of keratosis pilaris rubra, and we think that it could be a safety choice therapy. In addition, a well tolerance to treatment and a low incidence of serious side effects make it a very reliable therapy. Further clinical studies are needed to improve our findings.


Subject(s)
Abnormalities, Multiple , Darier Disease , Erythema/etiology , Eyebrows/abnormalities , Humans
14.
J Dermatol ; 49(9): 928-932, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35616138

ABSTRACT

Keratosis pilaris (KP) associates with epidermal barrier defects in atopic dermatitis (AD) but its role in disease severity and concomitant atopic diseases seems to vary between populations. We performed a cross-sectional observational study with 502 randomly selected AD patients of a Finnish tertiary health care center. At a single clinical examination, disease severity (Rajka Langeland severity score and EASI), clinical signs and patient history were evaluated and total IgE levels and frequent filaggrin (FLG) loss-of-function mutations were investigated. There was no link with disease severity (p = 0.649, 95% CI 0.569-0.654), asthma (p = 0.230, 95% CI 0.206-0.281) or atopic sensitization (p = 0.351, 95% CI 0.309-0.392). Keratosis pilaris was significantly associated with palmar hyperlinearity (p < 0.000, 95% CI 0.000-0.006, OR 4.664, 95% CI 2.072-10.496) and the filaggrin loss-of-function mutation 2282del4 (p < 0.000, 95% CI 0.000-0.009, OR 4.917, 95%CI 1.961-12.330). The prevalence of KP in the cohort was generally low and KP seems to be infrequent in Finnish AD patients. This may be explained by the fact that the tested FLG loss-of-function mutations are rarer in the Finnish population compared for example, with central Europe or Asia. Mutations in other locations of the FLG gene or other genes of the epidermal barrier may play a more important role.


Subject(s)
Dermatitis, Atopic , Abnormalities, Multiple , Cross-Sectional Studies , Darier Disease , Dermatitis, Atopic/genetics , Eyebrows/abnormalities , Filaggrin Proteins , Finland/epidemiology , Genetic Predisposition to Disease , Humans , Intermediate Filament Proteins/genetics , Mutation
15.
Genes (Basel) ; 13(5)2022 05 04.
Article in English | MEDLINE | ID: mdl-35627206

ABSTRACT

Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatological manifestations have been reported in a few cases. We describe a child affected with MIA-CID due to a previously unreported TTC7A homozygous missense mutation. Surgery for bowel occlusion was performed in the first days of life. The patient was totally dependent on parenteral nutrition since birth and presented severe diarrhea and recurrent infections. He underwent hematopoietic stem cell transplantation at 17 months with complete donor engraftment and partial immunity improvement. In the second year of life, he progressively developed diffuse papular follicular keratoses on ichthyosiform skin, nail clubbing, and subungual hyperkeratosis. Histopathology showed hyperkeratosis with follicular plugging and scattered apoptotic keratinocytes, visualized at an ultrastructural examination. Our findings expand the spectrum of dermatological manifestations which can develop in MIA-CID patients. Examination of further patients will allow defining whether keratinocyte apoptosis is also a disease feature.


Subject(s)
Darier Disease , Intestinal Atresia , Primary Immunodeficiency Diseases , Abnormalities, Multiple , Child , Eyebrows/abnormalities , Humans , Intestinal Atresia/genetics , Intestinal Atresia/pathology , Male , Mutation , Proteins/genetics
17.
Clin Exp Dermatol ; 47(10): 1858-1860, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35486686

ABSTRACT

We describe a patient with the keratosis pilaris atrophicans variant of cicatricial alopecia in conjunction with cardiofaciocutaneous syndrome.


Subject(s)
Darier Disease , Abnormalities, Multiple , Alopecia/complications , Darier Disease/complications , Ectodermal Dysplasia , Eyebrows/abnormalities , Facies , Failure to Thrive , Genetic Diseases, X-Linked , Heart Defects, Congenital , Humans , Ichthyosis , Skin Diseases, Genetic
18.
Pediatr Dermatol ; 39(3): 429-431, 2022 May.
Article in English | MEDLINE | ID: mdl-35229903

ABSTRACT

Keratosis pilaris rubra (KPR) is a subtype of keratosis pilaris (KP) presenting with numerous "grainlike" follicular papules in a background of confluent erythema most often affecting the face and upper extremities with persistence beyond puberty. Treatment has remained challenging with inconsistent benefit from topical therapies such as emollients, keratolytics, corticosteroids, and retinoids, though case reports documenting success with pulsed dye laser therapy have been found. We present a case of KPR in a 15-year-old boy who was successfully treated with topical sirolimus 1% cream.


Subject(s)
Abnormalities, Multiple , Darier Disease , Exanthema , Pityriasis Rubra Pilaris , Adolescent , Darier Disease/drug therapy , Emollients , Eyebrows/abnormalities , Humans , Immunosuppressive Agents/therapeutic use , Male , Sirolimus/therapeutic use
19.
Pediatr Dermatol ; 39(2): 231-235, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35178760

ABSTRACT

BACKGROUND/OBJECTIVES: Follicular keratosis (FK) is a poorly understood disorder presenting with multiple, grouped hyperkeratotic follicular papules typically affecting the chin or jawline. This study describes the clinical presentation, histopathology, management, and outcomes of a series of pediatric patients of color with FK of the face, thought to be related to rubbing or friction on the skin. METHODS: Retrospective review of 20 pediatric patients with FK of the face who presented to our pediatric dermatology practice between April 2019 and October 2021. RESULTS: Twenty patients (mean age 12.1 years, 13 females), all self-identified as Black/African American, were included. All presented with an initially asymptomatic, hyperpigmented patch containing multiple hyperkeratotic follicular papules, located on the cheek, chin, upper lip, and/or jawline. Five patients endorsed a history of rubbing the site. Nine patients had onset of the lesions during the COVID-19 pandemic. Treatments included topical vitamin D analogs, corticosteroids, and/or retinoids. Topical vitamin D analogs and retinoids improved the texture and hyperpigmentation of the follicular lesions in only four patients, while topical corticosteroids had no effect. Histopathological examination of two patients revealed multiple dilated follicles containing keratinized material and associated with a sparse dermal inflammatory infiltrate in one patient and granulomatous inflammation within the dermis in the other. CONCLUSIONS: In our cohort of pediatric patients with FK, patients of color were preferentially affected, and all cases were associated with hyperpigmentation. Some patients presented during the COVID-19 pandemic suggesting that friction from facial mask wearing may have induced or exacerbated this uncommon condition.


Subject(s)
COVID-19 , Darier Disease , Hair Diseases , Hyperpigmentation , Abnormalities, Multiple , Child , Eyebrows/abnormalities , Female , Humans , Hyperpigmentation/etiology , Male , Pandemics , Retinoids , Vitamin D
20.
Gut Liver ; 16(5): 754-763, 2022 09 15.
Article in English | MEDLINE | ID: mdl-35000932

ABSTRACT

Background/Aims: Narrow band imaging provides an accurate diagnosis of colonic polyps. However, these diagnostic modalities are not used as standard endoscopic tools in most institutions. This study aims to investigate whether the chicken skin mucosa (CSM) surrounding the colon polyp yields additional information about colorectal polyps, including histological differentiation of neoplastic and non-neoplastic polyps, under conventional white light colonoscopy. Methods: This study prospectively observed 173 patients who underwent endoscopic polypectomy and reviewed the clinical data and pathologic reports of 313 polyps from a university hospital. Two endoscopists each performed colonoscopy and polypectomy and assessed the CSM. The association between CSM surrounding colorectal polyps and histology was analyzed. Results: The majority (91.3%) of CSM-positive polyps were neoplastic (sensitivity, 37.90%; specificity, 86.15%; p<0.001). In logistic regression, the neoplastic polyps were associated with positive CSM (adjusted odds ratio [OR], 3.51; 95% confidence interval [CI], 1.45 to 9.25; p=0.007), protruded polyps (adjusted OR, 4.85; 95% CI, 1.65 to 17.23; p=0.008), and neoplastic histology-associated pit pattern (pit III, IV, and V) (adjusted OR, 10.14; 95% CI, 4.85 to 22.12; p=0.000). Furthermore, advanced adenomas were associated with positive CSM (adjusted OR, 5.64; 95% CI, 1.77 to 20.28; p=0.005), protruded polyps (adjusted OR, 3.30; 95% CI, 1.15 to 9.74; p= 0.026), and ≥10 cm polyp size (adjusted OR, 18.56; 95% CI, 3.89 to 147.01; p=0.001). Conclusions: Neoplastic and advanced polyps were associated with CSM-positive polyps. These findings suggest that CSM is a useful marker in differentiating neoplastic polyps and advanced polyps under conventional white colonoscopy.


Subject(s)
Colonic Neoplasms , Colonic Polyps , Colorectal Neoplasms , Abnormalities, Multiple , Animals , Chickens , Colonic Neoplasms/diagnosis , Colonic Neoplasms/pathology , Colonic Polyps/diagnosis , Colonic Polyps/pathology , Colonoscopy/methods , Colorectal Neoplasms/diagnosis , Darier Disease , Eyebrows/abnormalities , Humans
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