Dirt-Like Hyperpigmented Plaques on the Neck and Linea Alba of a 12-Year-Old Girl

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Biallelic mutations in <i>KDSR </i>disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin. Thrombocytopenia was present in all patients. The mutations in KDSR were associated with reduced ceramide levels in skin and impaired platelet function. KDSR enzymatic activity was variably reduced in all patients, resulting in defective acylceramide synthesis. Mutations in KDSR have recently been reported in inherited recessive forms of progressive symmetric erythrokeratoderma, but our study shows that biallelic mutations in KDSR are implicated in an extended spectrum of disorders of keratinization in which thrombocytopenia is also part of the phenotype. Mutations in KDSR cause defective ceramide biosynthesis, underscoring the importance of ceramide and sphingosine synthesis pathways in skin and platelet biology

Data from: Hepatotoxicity of isotretinoin in patients with acne and Gilbert's syndrome: comparative study

Objectives: The objective of our follow-up study is to evaluate liver function tests (LFTs) and lipid profiles in patients with Gilbert's syndrome treated with isotretinoin because of severe acne. Setting: Dermatology outpatient clinics of three regional hospitals of Jaén (Spain). Participants: Over 4 years, we included all patients diagnosed with severe acne. Only 37 patients were identified, of which 11 had Gilbert's syndrome. Interventions: All patients were treated with isotretinoin and followed-up in our outpatient clinics after 10 and 20 weeks. Patients were subjected to an interview questionnaire which included data on age, gender, complete blood count, coagulation profile, fasting blood glucose, LFTs and lipid profiles. Data and results of patients with severe acne and Gilbert's syndrome were compared with those of 26 patients with only severe acne (control group). Primary: outcome Blood analyses were repeated in the follow-up visits. Results: In patients with Gilbert's syndrome, bilirubin levels showed substantial decrease over the 20-week follow-up, with more decrease after 10 weeks. None of the control group patients had significant increase in total bilirubin levels after 10 and 20 weeks of follow-up. Liver enzymes were maintained within normal levels in both groups. Both study groups did not show significant pathological increase in lipid profile levels. LDL levels were increased in the two study groups, but this increase was less substantial in patients with Gilbert's syndrome. Conclusions: Our preliminary results suggest that oral isotretinoin could be an effective, safe treatment for patients with Gilbert's syndrome, and may lower bilirubin levels in the first 10 weeks of treatment. Limitations of the study include the small numbers of participants and the fact that it is restricted to one region of Spain

Essential telangiectasia in an infant: a diagnosis to be considered

Essential generalized telangiectasia as the result of postcapillary venule dilatation, is characterized by the sudden development of generalized telangiectasias, sometimes involving the conjunctiva. A few pediatric cases have been reported. The main condition in the differential diagnosis includes syndromes with telangiectasia such as hereditary hemorrhagic telangiectasia of Rendu-Osler, unilateral nevoid telangiectasia, and neonatal lupus erythematous. We present an 11-month-old boy that presented because of telangiectasia located on the face and neck. The telangiectasias appeared at two months of age and followed a progressive course. Nd-YAG laser therapy could be an interesting therapeutic approach in cosmetically compromised cases

Trichomycosis axillaris dermoscopy

Trichomycosis axillaris is a common but underdiagnosed condition of the skin. The dermoscopic image of this disease is not previously described in the scientific literature. We believe that dermoscopy is a convenient and interesting diagnostic method that may aid in the diagnosis

Facial extensive ulcer

SUMMARY Basosquamous carcinoma (BSC), as described in 1910, is a distinctive variety of skin cancer and its etiology and pathological characteristics have generated much controversy over the years. Currently, BSC is considered a basal cell carcinoma (BCC) subtype with aggressive behavior and greater tendency for recurrence and metastases. We present a clinical case recently reported in our unit

Hepatotoxicity of Isotretinoin and Gilbert's syndrome

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Solitary Circumscribed Neuroma: Dermoscopic clues to facilitate diagnosis

Interesting Medical Imag

Trichomycosis axillaris dermoscopy

Trichomycosis axillaris is a common but underdiagnosed condition of the skin. The dermoscopic image of this disease is not previously described in the scientific literature. We believe that dermoscopy is a convenient and interesting diagnostic method that may aid in the diagnosis