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Peeling skin syndrome is a rare genodermatosis characterized by variably pruritic superficial generalized peeling of the skin with several genes involved until now little is known about the association between FLG2 and peeling skin syndrome. We describe multiple family members from a consanguineous Saudi family with peeling skin syndrome. Next Generation Sequencing identifies a cosegregating novel variant in FLG2 c.632C>G (p.Ser211*) as a likely etiology in this family. Here, we reported on the clinical manifestation of homozygous loss of function variant in FLG2 as a disease-causing gene for peeling skin syndrome and expand the dermatology findings.
Assuntos
Dermatite Esfoliativa/genética , Proteínas S100/genética , Dermatopatias Genéticas/genética , Adolescente , Dermatite Esfoliativa/diagnóstico , Dermatite Esfoliativa/patologia , Feminino , Proteínas Filagrinas , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Linhagem , Análise de Sequência de DNA , Pele/patologia , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologiaRESUMO
The peeling procedure is a valuable method for the aged skin, photo aging, acne scars and melasma. It should be performed by dermatologist. Pre peeling preparation of the skin is very important to prepare the skin for this procedure. It can be archived by applying the mask with acids twice a week. The caring of the skin after procedure is also very important for the success of the treatment. Same cases may have complication but managing them is also a challenge for dermatologist.
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Abrasão Química , Abrasão Química/efeitos adversos , Abrasão Química/métodos , Humanos , Dermatopatias/terapiaRESUMO
This case report describes a 21-year-old female who was diagnosed with Kawasaki disease (KD), a rare condition in adults. Careful clinical assessment, including the history of a recent upper respiratory tract infection and the physical findings of fever, sinus tachycardia, strawberry tongue, and skin peeling of the hands and feet, prompted further evaluation. Laboratory findings supported an inflammatory process, and multidisciplinary consultations led to the diagnosis of KD. Prompt treatment with acetylsalicylic acid and intravenous immunoglobulin resulted in rapid improvement and prevention of the severe complications associated with untreated KD, particularly in the cardiovascular system. This case emphasizes the importance of the high risk of suspicion and the need for a comprehensive evaluation in atypical presentations of KD in adults, where early recognition and management are crucial to prevent long-term sequelae such as coronary artery aneurysms and myocardial infarction.
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@#Introduction: Kawasaki disease (KD) is an acute febrile illness of unknown etiology that primarily affects children younger than 5 years of age. The diagnosis is predominantly clinical and at times difficult, due to the absence of any confirmatory and specific diagnostic test. Early diagnosis of this disease is of paramount importance due to long term cardiovascular complications related to coronary artery aneurysm. Literature search has revealed many atypical presentations of Kawasaki disease not fulfilling the clinical diagnostic criteria. The reason for this could be the diversity in clinical manifestations involving gastrointestinal, endocrinal, musculoskeletal and nervous system. Case Series: Here we describe three cases with non-classic presentation of Kawasaki disease. These three cases presented with persistent fever unresponsive to antibiotics. Two cases (case one and three) later developed perianal rash and peeling that helped in early diagnosis. In the remaining case (case two) sequential appearance of features helped in the establishment of diagnosis. It was interesting to note that all the three cases were having identical laboratory parameters, highlighting the importance of laboratory investigations in case of atypical presentation. Conclusion: This case series culminates the importance of keeping the possibility of atypical Kawasaki disease (KD) as one of the differentials in patients with prolonged fever not responding to antibiotics, in the absence of classical diagnostic criteria.
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Objective To provide laboratory data of Chinese medicine peeling for clinical application.MethodsThe experimental durgsexposed at different times was investigated to observe cutaneous damage in guinea pigs. Results Three days after the application of the Chinese drugs, the extents of damage of the skin was as follows: 0.22?0.06 mm in depth(in malpighian and dermis papillary layer) in NeFuji group; 0.53?0.03mm(in dermis reticular layer)in Baker Gorden liquid gruop;0.10?0.02 mm(in superficial stratum corneum layer)in Jessner liquid group;0.12?0.03 mm(in stratum corneum layer)in group of lower concentration NeFuji. In groups of Chinese medicinal peeling and Baker Gorden liquid, solidification and necrosis of corneum protein were noted and rearrangement of collagenous fiber in upper middle layer of derma took place. The layer of dermis reticulum was infiltrated by neutrophilic granulocytes, lymphocytes and macrophages. No skin damage was found in control group. Conclusions The Chinese medicinal peeling is superior to chemical peeling in terms of controlling the depth and avoidance of scar formation, acceleraes the metabolism of dead and injured cells of epidermis with thickening of the dermis layer and disappearance of wrinkles, and reaches the goal of tender skin.