RESUMO
Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. We report the clinical findings of two Cambodian brothers who presented with diffuse, demarcated PPK with transgrediens extending to the elbows and knees, as well as pachyonychia and dental caries. Arachnodactyly and periodontitis were also found in the older brother. Next-generation sequencing unveiled a homozygous missense variant in CTSC (NM_001814.5: c.1337AC: p.(Asp446Ala)) in both brothers. Both parents were heterozygous for the variant, while an unaffected older brother was homozygous for the wild-type allele. Our study adds to the spectrum of mutations and associated clinical presentations for this rare genodermatosis.
Assuntos
Acro-Osteólise/genética , Catepsina C/genética , Ceratodermia Palmar e Plantar/genética , Doença de Papillon-Lefevre/genética , Acro-Osteólise/diagnóstico por imagem , Acro-Osteólise/epidemiologia , Acro-Osteólise/fisiopatologia , Adolescente , Camboja/epidemiologia , Criança , Feminino , Homozigoto , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/epidemiologia , Ceratodermia Palmar e Plantar/fisiopatologia , Masculino , Mutação/genética , Doença de Papillon-Lefevre/diagnóstico por imagem , Doença de Papillon-Lefevre/epidemiologia , Doença de Papillon-Lefevre/fisiopatologia , Linhagem , IrmãosRESUMO
BACKGROUND: Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). AIMS: To better understand the relationship between PPK and the gene mutations in DSP. METHODS: A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study. Samples were derived from the blood of patients and normal healthy controls. DSP gene sequence analysis and Q-PCR analysis was performed for evaluating DSP gene mutation and expression. RESULTS: A novel heterozygous missense mutation c.3550 C>T in the coding region of the DSP gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of PPK. In the meanwhile, this mutation was not found in 100 healthy individuals. CONCLUSIONS: The novel missense mutation c.3550 C>T(p.Arg1184Trp) of DSP gene expanded the mutation spectrum in palmoplantar keratoderma.
Assuntos
Povo Asiático/genética , Desmoplaquinas/genética , Ceratodermia Palmar e Plantar/genética , Estudos de Casos e Controles , Dermoscopia , Feminino , Heterozigoto , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/patologia , Masculino , Microscopia Confocal , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , LinhagemAssuntos
Cardiomiopatias/diagnóstico por imagem , Doenças do Cabelo/diagnóstico por imagem , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Síndrome LEOPARD/diagnóstico por imagem , Angiografia por Ressonância Magnética/métodos , Cardiomiopatia Dilatada , Criança , Diagnóstico Diferencial , Humanos , Masculino , FenótipoAssuntos
Cardiomiopatias/diagnóstico , Desmoplaquinas/genética , Doenças do Cabelo/diagnóstico , Ceratodermia Palmar e Plantar/diagnóstico , Irmãos , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/genética , Cardiomiopatia Dilatada , Pré-Escolar , Diagnóstico Diferencial , Feminino , Aconselhamento Genético , Doenças do Cabelo/diagnóstico por imagem , Doenças do Cabelo/genética , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/genética , MutaçãoAssuntos
Carcinoma de Células Renais/diagnóstico por imagem , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Neoplasias Renais/diagnóstico por imagem , Idoso , Carcinoma de Células Renais/complicações , Diagnóstico Diferencial , Humanos , Ceratodermia Palmar e Plantar/complicações , Neoplasias Renais/complicações , MasculinoRESUMO
Woolly hair may occur as an isolated problem of cosmetic concern or can be a part of a systemic disease (woolly hair syndrome) with underlying fatal cardiomyopathy. Two characteristic associations of woolly hair syndrome are Naxos disease and Carvajal syndrome. Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.
Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Doenças do Cabelo/diagnóstico , Ceratodermia Palmar e Plantar/diagnóstico , Disfunção Ventricular Esquerda/diagnóstico , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Displasia Arritmogênica Ventricular Direita/patologia , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Pré-Escolar , Ecocardiografia , Eletrocardiografia , Feminino , Doenças do Cabelo/diagnóstico por imagem , Doenças do Cabelo/patologia , Doenças do Cabelo/fisiopatologia , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/patologia , Ceratodermia Palmar e Plantar/fisiopatologia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/fisiopatologiaRESUMO
Aquagenic wrinkling of the palms (AWP) is a rare condition, which is characterized by appearance of whitish papules and plaques, and an excessive wrinkling and swelling of the palmar skin after exposure to water. In most cases, young women are affected, and an association of AWP with cystic fibrosis (CF) has been surmised. We report on two cases of AWP, which were not related to CF, in whom we used two innovative imaging techniques, namely high-definition optical coherence tomography and reflectance confocal microscopy, to show in vivo skin changes occurring after exposure of the skin to tap water in comparison to the findings in a healthy control person.
Assuntos
Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/patologia , Envelhecimento da Pele/patologia , Pele , Água/efeitos adversos , Adulto , Feminino , Mãos , Humanos , Ceratodermia Palmar e Plantar/etiologia , Microscopia Confocal , Radiografia , Pele/diagnóstico por imagem , Pele/patologia , Tomografia de Coerência Óptica , Adulto JovemRESUMO
BACKGROUND: High-variable-frequency ultrasound is used as an imaging tool for various cutaneous disorders. We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM). OBJECTIVE: To ascertain the feasibility of ultrasound technology for the diagnosis of PC. METHODS: The study included a total of 16 patients, 7 with PC, 5 with EPPK and 4 with MDM, who underwent ultrasound examination of the plantar skin with high-resolution multifrequency ultrasound equipment. RESULTS: Ultrasound scans performed over the proximal and distal plantar foot calluses in PC patients demonstrated hyperechoic dots and lines within the epidermis compatible with hyperkeratosis, engorged varicose veins in the dermis and an anechoic layer interposed between the epidermis and the dermis, corresponding to blister fluid below the calluses. In contrast to PC patients, patients with MDM and EPPK demonstrated no blisters. CONCLUSION: PC patients, as opposed to a group of patients with MDM and EPPK, displayed subepidermal blistering beneath their calluses. This finding may help in the diagnosis of PC and in partially explaining plantar pain as part of PC symptomatology.
Assuntos
Vesícula/diagnóstico por imagem , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Paquioníquia Congênita/diagnóstico por imagem , Pele/diagnóstico por imagem , Adolescente , Adulto , Vesícula/complicações , Criança , Pré-Escolar , Feminino , Pé/irrigação sanguínea , Pé/diagnóstico por imagem , Humanos , Ceratodermia Palmar e Plantar Epidermolítica/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Paquioníquia Congênita/complicações , Dor/etiologia , Pele/irrigação sanguínea , Ultrassonografia/métodos , Varizes/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND AND PURPOSE: Radiotherapy (RT) is well accepted for therapy-refractory palmo-plantar eczema or psoriasis, despite of lacking evidence regarding beneficial long term effects. Furthermore, the optimal irradiation dose is unknown. We evaluated the outcome of RT with two different RT single/total dose (SD/TD) treatment policies. PATIENTS AND METHODS: 28 consecutive patients with therapy-refractory eczema (n = 22) or psoriasis (n = 6) of palms and/or soles were irradiated twice a week either with a D(max) SD of 1 Gy (6/98-5/03; median TD: 12 Gy) or 0.5 Gy (6/03-7/04; median TD: 5 Gy). Median age was 52 years (27-71), median follow-up 20 months (4-76). Totally 88 regions were treated, 49 with 1 Gy, 39 with 0.5 Gy SD. Eight different symptoms were scored from 0 (absent) -3 (severe), giving a possible sum score of 0-24. Patients' rating of RT result was also documented (worse/stable/better/complete remission). RESULTS: The sum score was 15 (6-23) before RT, 2 (0-16) at the end of RT, and 1 (0-21) at last follow-up, respectively. The improvement was highly significant in both treatment regimens. Better or complete remission by the patients were reported in 44 and 39 (= 83 out of 88) localisations, that was often stable during the follow-up. 5 (6%) regions in 3 (11%) patients didn't benefit from RT. CONCLUSION: RT reveals excellent results in palmo-plantar eczema or psoriasis. We recommend a SD of 0.5 Gy twice a week up to a TD of 4-5 Gy.
Assuntos
Eczema Disidrótico/radioterapia , Psoríase/radioterapia , Radioterapia/efeitos adversos , Adulto , Idoso , Feminino , Seguimentos , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Dor/diagnóstico por imagem , Cintilografia , Dosagem Radioterapêutica , Estudos Retrospectivos , Dermatopatias/classificação , Dermatopatias/diagnóstico por imagemAssuntos
Hiperostose Esquelética Difusa Idiopática/diagnóstico por imagem , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Espondilite Anquilosante/diagnóstico por imagem , Humanos , Hiperostose Esquelética Difusa Idiopática/genética , Ceratodermia Palmar e Plantar/genética , Vértebras Lombares/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Radiografia , Espondilite Anquilosante/genética , Síndrome , Vértebras Torácicas/diagnóstico por imagemRESUMO
A 56-year-old female patient had suffered from isolated, unclassified palmoplantar keratosis since childhood. During the climacteric horny papules appeared for the first time on the extremities and trunk. Histologically, the efflorescences on the body and the palmoplantar keratosis were classifiable as keratosis follicularis. Predilection sites of Darier's disease were spared. Altogether, the usual pattern of involvement was reversed.
Assuntos
Doença de Darier/patologia , Ceratodermia Palmar e Plantar/patologia , Biópsia , Doença de Darier/diagnóstico por imagem , Feminino , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Microscopia Eletrônica , Pessoa de Meia-Idade , Pele/diagnóstico por imagem , Pele/patologia , UltrassonografiaRESUMO
For the past 15 years, a procedure the authors have termed proximal metatarsal segmental resection has been used for the treatment of intractable, painful, submetatarsal plantar keratoses which have failed nonoperative treatments. This simple procedure basically is the resection of a cylindrical segment of proximal metatarsal bone approximately 0.5 cm long. Fifty-four patients (70 metatarsals) underwent the procedure and were followed a mean of 6 years. Good to excellent results were reported in 89% of these patients. Transfer lesions occurred in 18% of feet and were responsible for all fair and poor results. When the procedure was carried out in association with a bunion correction, transfer lesions occurred in 23%; whereas when performed as an isolated metatarsal procedure, transfer lesions followed in 12%. Recurrent keratoses developed in 7%. This technically simple procedure is associated with minimal patient morbidity and should be considered an option in the surgical management of metatarsalgia.
Assuntos
Ceratodermia Palmar e Plantar/cirurgia , Ossos do Metatarso/cirurgia , Feminino , Seguimentos , Humanos , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Ceratodermia Palmar e Plantar/fisiopatologia , Masculino , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/fisiopatologia , Pessoa de Meia-Idade , Dor/fisiopatologia , Radiografia , RecidivaRESUMO
Bone scintigraphy using 99mTc-EHDP was carried out in 147 psoriatics of both sexes and in 35 nonpsoriatic patients. The psoriatics were subdivided into four groups according to clinical aspects: psoriasis vulgaris (Pv, n = 55), psoriasis inversa (Pinv, n = 32), psoriasis pustulosa of the Königsbeck-Barber type (PpK-B, n = 28), and pustulosis palmaris et plantaris (Ppp, n = 32). The following frequencies of joint involvement were found in the different groups: Pv = 18.3%; Pinv = 22.6%, PpK-B = 11.1%; Ppp = 12.5%; control group 2.3%. In patients suffering from psoriasis vulgaris and psoriasis inversa a pathologic preferential radionuclide uptake was demonstrated in the small peripheral joints of the hands and fingers. The characteristic psoriatic pattern with axial and transverse joint involvement was found in all groups of psoriatic patients. No correlation could be proved between age and pathologic accumulation of the radionuclide or between duration of psoriasis and joint involvement. The so-called anterior chest wall syndrome was found in all patients, but predominantly in those with psoriasis palmaris et plantaris. Finally the indications for bone scintigraphy are discussed.
Assuntos
Artrite/diagnóstico por imagem , Ceratodermia Palmar e Plantar/diagnóstico por imagem , Psoríase/diagnóstico por imagem , Feminino , Humanos , Articulações/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Cintilografia , Medronato de Tecnécio Tc 99m/análogos & derivadosRESUMO
Sternocostoclavicular hyperostosis is a rare syndrome that is characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. This syndrome frequently is found in the case of palmoplantar pustulosis (PPP), especially in Japan. There have been few published reports, however, of Tc-99m MDP bone imaging findings in PPP. Eleven patients with PPP who were suspected to have sternocostoclavicular hyperostosis were studied with Tc-99m MDP whole body bone imaging. Bone images were abnormal in 11 patients. Abnormal radionuclide concentrations were observed in the sternoclavicular, sternocostal, and manubriosternal joints, in the ribs, and in the sternum. Whole body imaging revealed radionuclide accumulations unexpectedly in other bones such as the vertebrae, femur, tibia, or sacroiliac joints in five of 11 cases. Radiographs were available in nine patients. Three chest radiographs were negative, and six showed various degrees of hyperostosis or sclerotic changes in sternoclavicular, sternocostal, or manubriosternal joints, or in the sternum or anterior upper ribs. These bone lesions usually were more prominent and more easily recognized with bone scintigraphy. Bone scintigraphy should be used as a routine procedure in patients with PPP who are suspected to have sternocostoclavicular hyperostosis.