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3.
Eur J Hum Genet ; 30(11): 1292-1296, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35676340

RESUMO

We present the first pachyonychia congenita (PC) to involve all ectodermal derivatives and the first recessive KRT17-related PC in total seven members of two consanguineous Pakistani families. This atypical PC is characterized by an unusual combination of pachyonychia, plantar keratoderma, folliculitis, alopecia, sparse eyebrows, dental anomalies and variable acanthosis nigricans of neck, dry skin, palmoplantar hyperhidrosis, recurrent blisters on soles and/or arms, rough sparse hair on scalp and keratosis pilaris. By exome sequencing we detected homozygous KRT17 c.281G>A (p.(Arg94His)) in affected individuals, and linkage mapping indicated a single locus. Heterozygous variants in KRT17 cause PC2 (PC-K17) with main characteristics of pachyonychia, subungual keratosis, palmoplantar keratoderma, hyperhidrosis, oral leukokeratosis and epidermal cysts, or steatocystoma multiplex, both with dominant inheritance. The causative variant has been reported in heterozygous state in a family afflicted with severe steatocystoma multiplex and in a sporadic PC2 case, and thus we also define a third phenotype related to the variant. Both exome sequencing and linkage mapping demonstrated recessive inheritance whereas Sanger sequencing indicated heterozygosity for the causal variant, reiterating caution for simple targeted sequencing for genetic testing. Testing parents for variants found in sibs could uncover recessive inheritance also in other KRT genes.


Assuntos
Hiperidrose , Unhas Malformadas , Paquioníquia Congênita , Esteatocistoma Múltiplo , Anormalidades Dentárias , Humanos , Sobrancelhas , Queratina-17/genética , Mutação , Unhas Malformadas/genética , Paquioníquia Congênita/genética , Linhagem
5.
J Cutan Med Surg ; 25(6): 586-590, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33908804

RESUMO

Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in follicular proliferation mutual in the pathogenesis of both conditions. Here we present 5 patients with both hidradenitis suppurativa and steatocystoma multiplex. Recognizing the overlap between these 2 conditions is important for accurate diagnosis, management, and identification of potential surgical candidates, as well as future basic science research.


Assuntos
Hidradenite Supurativa/complicações , Esteatocistoma Múltiplo/complicações , Adulto , Diagnóstico Diferencial , Feminino , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/terapia , Humanos , Masculino , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/terapia
8.
J Cosmet Dermatol ; 20(1): 218-221, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32390282

RESUMO

BACKGROUND: Steatocystoma multiplex (SM) is a disorder of the pilosebaceous unit characterized by multiple sebum-containing dermal cysts. Psychological distress of patients is always derived from these undesirable lesions. Although various treatments have been attempted to improve cosmetic outcomes, no optimal treatment strategy has been established to date.. AIMS: To provide a facile and practical surgical technique combined with tissue adhesive for the treatment of steatocystoma multiplex. METHOD: Forty patients diagnosed as SM were treated with simple modified surgical technique. After local anesthesia, the surface skin was incised about 1-2 mm using a No. 11 blade. When the wall was punctured, the cyst should be squeezed to cause the contents to come out first. Then, we used single toothed forceps which were inserted through the narrow incision. When the cyst was exposed, the mosquito forceps grasp the portion of the cyst and pull it out gently. Then, the incisions were pressed locally, and tissue adhesive was employed to align them when there was no bleeding. We just took approximately 1-2 minutes to excise one cyst completely. RESULT: We successfully treated forty SM patients with our simple modified surgical technique. After treatment, excellent clinical outcomes and minimal adverse effects were observed in this study. And more importantly, no recurrence was found 12 months after the surgery. CONCLUSION: Our simple modified surgical technique was proved to be practical and have excellent results in the long run. We highly recommend this treatment technique as the first-line therapy for SM.


Assuntos
Cistos , Cisto Epidérmico , Esteatocistoma Múltiplo , Adesivos Teciduais , Cisto Epidérmico/cirurgia , Humanos , Recidiva Local de Neoplasia , Adesivos Teciduais/uso terapêutico
10.
J Ultrasound Med ; 39(11): 2255-2260, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32356597

RESUMO

The ultrasound features of 87 steatocytoma multiplex (SCM) lesions detected in 9 patients are reported. Steatocytoma multiplex is a hamartomatous condition derived from the pilosebaceous duct junction that generates multiple cutaneous cystic lesions. It appeared as clusters of well-defined hypoechoic nodules with mild posterior enhancement in 100% of cases, with both dermal and subcutaneous locations in 67%. No calcification foci were detected within or at the periphery of the lesions. Fifty-six percent of the cases showed signs of hypervascularity in the edge of the nodules, and 44% of the lesions were associated with another dermatologic condition, most frequent being hidradenitis suppurativa (75%), followed by vellus hair cysts (25%). Steatocytoma multiplex shows ultrasound features that allow discrimination from other common cutaneous entities.


Assuntos
Cistos , Cisto Epidérmico , Hamartoma , Hidradenite Supurativa , Esteatocistoma Múltiplo , Cisto Epidérmico/diagnóstico por imagem , Humanos , Ultrassonografia
14.
J Eur Acad Dermatol Venereol ; 33 Suppl 6: 42-44, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31535759

RESUMO

Steatocystoma multiplex (SM) is a rare autosomal dominant disease characterized by multiple asymptomatic intradermal true sebaceous cysts of variable size. These lesions may occasionally rupture, become inflamed, painful and heal with scarring [SM suppurativa (SMS)], thus sharing overlapping features with hidradenitis suppurativa (HS). The question of whether SMS simply mimics HS or if the two diseases may be associated remains open. We report three patients (2 M/1 F; age: 47, 27 and 40 years) affected by SMS showing inflammatory lesions on the areas typically affected by HS. Repeated skin biopsy from each patient showed true sebaceous cysts in some specimens and findings compatible with HS, without sebaceous glands evidence in others, supporting coexistence of the two diseases. Adalimumab at the initial dose of 160 mg (day 1), followed by 80 mg (day 15), and maintained at the dose of 40 mg every week from day 29 on, improved both HS and SMS lesions, including also non-inflammatory cystic lesions.


Assuntos
Adalimumab/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Hidradenite Supurativa/tratamento farmacológico , Esteatocistoma Múltiplo/tratamento farmacológico , Adulto , Feminino , Hidradenite Supurativa/complicações , Hidradenite Supurativa/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Esteatocistoma Múltiplo/complicações , Esteatocistoma Múltiplo/patologia
15.
Skin Res Technol ; 25(6): 877-880, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31353757

RESUMO

BACKGROUND: Steatocystoma multiplex (SM) is an uncommon skin disease manifesting as multiple sebum-containing cysts arising in pilosebaceous unit-rich body areas. Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory disease affecting the apocrine gland-bearing skin and presenting with both pseudocystic and inflammatory nodules, abscesses and fistulas. Considering that genetics has been reported to play a role in both entities, the albeit rare association between them suggests a shared genetic background. Although histology remains the gold standard for the diagnosis of SM, ultrasonography can be an useful diagnostic tool. This method is largely used in combination with Color Doppler for assessing disease severity in HS. MATERIALS AND METHODS: We report three cases of coexisting SM and HS and describe the ultrasonography and Color Doppler features of the two entities. RESULTS: SM lesions appeared on ultrasonography as hypoechoic nodules with well-defined hyperechoic borders and posterior acoustic enhancement, in the absence of Color Doppler signal. HS lesions had the ultrasonographic features of the fistulas, abscesses and pseudocystic nodules, some of which including hair fragments, with an intense Color Doppler signal within or around inflamed lesions. CONCLUSION: The combination of ultrasonography and Color Doppler proved to be a reliable instrument for differentiating between SM and HS lesions, particularly distinguishing HS pseudocystic nodules from true cysts of SM.


Assuntos
Hidradenite Supurativa , Esteatocistoma Múltiplo , Ultrassonografia Doppler em Cores/métodos , Adulto , Axila/diagnóstico por imagem , Axila/patologia , Feminino , Hidradenite Supurativa/complicações , Hidradenite Supurativa/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Esteatocistoma Múltiplo/complicações , Esteatocistoma Múltiplo/diagnóstico por imagem , Adulto Jovem
18.
Can Fam Physician ; 64(12): 892-899, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30541803

RESUMO

OBJECTIVE: To provide family physicians with the information needed to recognize, diagnose, and discuss available treatment options for steatocystoma multiplex (SM). SOURCES OF INFORMATION: A comprehensive PubMed search using steatocystoma multiplex as either a text word or a MeSH term was conducted, and articles reporting on treatment outcomes were included. MAIN MESSAGE: Steatocystoma multiplex is a benign disorder often characterized by numerous asymptomatic dermal cysts on the trunk, arms, axillae, face, thighs, and scalp. Psychological distress due to these undesirable lesions is not uncommon for this condition. A literature review identified the following SM treatments, all of which were associated with limitations: carbon dioxide laser, modified surgical techniques, cryotherapy, and medical management. Steatocystoma multiplex is challenging to treat and, at this time, effective management is most often achieved through patient education. CONCLUSION: Family physicians play a critical role in the early diagnosis and management of SM. Education about treatment options and managing patient expectations might greatly alleviate the psychosocial implications of this disease.


Assuntos
Cisto Epidérmico/patologia , Esteatocistoma Múltiplo/diagnóstico , Esteatocistoma Múltiplo/terapia , Gerenciamento Clínico , Diagnóstico Precoce , Feminino , Humanos , Médicos de Família , Adulto Jovem
19.
Mol Med Rep ; 18(2): 1423-1432, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29901124

RESUMO

Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next­generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP. Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co­segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. To the best of our knowledge, this mutation has not been reported prior to the present study. In addition, it was correlated with extra­colonic phenotypes featuring duodenal polyposis and sebaceous cysts in this family. This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future.


Assuntos
Proteína da Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/genética , Mutação da Fase de Leitura , Predisposição Genética para Doença , Esteatocistoma Múltiplo/genética , Polipose Adenomatosa do Colo/etnologia , Polipose Adenomatosa do Colo/patologia , Proteína da Polipose Adenomatosa do Colo/química , Adolescente , Adulto , Idoso , Povo Asiático , Sequência de Bases , Estudos de Casos e Controles , Éxons , Feminino , Expressão Gênica , Estudos de Associação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Linhagem , Estrutura Secundária de Proteína , Esteatocistoma Múltiplo/etnologia , Esteatocistoma Múltiplo/patologia
20.
Dermatol. pediátr. latinoam. (En línea) ; 13(2): 90-105, abr.-jun. 2018. ilus
Artigo em Espanhol | LILACS | ID: biblio-982663

RESUMO

La paquioniquia congenital (PC) es una genodermatosis poco frecuente, caracterizada por presentar queratodermia palmoplantar dolorosa y debilitante, uñas hipertróficas, hiperqueratosis folicular, quistes epidérmicos, leucoqueratosis oral y ocasionalmente hiperhidrosis, ronquera y dientes natales. Está asociada a mutaciones heterocigotas en los genes que codifican queratinas 6a, 6b, 6c, 16 y 17. Se presenta una familia con dos miembros en dos generaciones afectados por PC: un niño de 2 años de edad con alteración de la coloración, hiperqueratosis de las 20 uñas, con dolor periungueal, múltiples pápulas foliculares color piel en tronco y dientes natales y su madre, con alteración del esmalte dentario, distrofia hipertrófica de las 20 uñas, cromoniquia, queratodermia plantar dolorosa y múltiples esteatocistomas de distribución generalizada.En ambos, se realizó el diagnóstico molecular por secuenciación masiva de exoma clínico, el cual confirmó el diagnóstico clínico y permitió determinar inequívocamente el tipo de PC en el niño, motivo de ésta presentación.


Pachyonychia congenital (PC) is a rare genodermatosis characterized by painful palmoplantar keratoderma, hypertrophic nail dystrophy, follicular hyperkeratosis, epidermal cysts, oral leukokeratosis and, less commonly, palmoplantar hyperhidrosis, hoarseness and natal teeth. PC is caused by mutations in keratin 6a, 6b, 6c, 16 and 17 genes. We report a family with two members in two generations affected by PC: a two-year old boy, presenting abnormal pigmentation and hyperkeratosis of the 20 nails, perionychium pain, multiple skin-colored follicular papules on the trunk and natal teeth. His mother has dental enamel defects, hypertrophic dystrophy of the fingernails and toenails, chromonychia, painful plantar keratoderma and generalized steatocystoma multiplex. We performed the molecular diagnosis by clinical exome massive sequencing which allowed us to confirm the clinical diagnosis and to determine the specific type of PC in our patient.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Adulto , Ceratose , Paquioníquia Congênita , Esteatocistoma Múltiplo , Onicomicose
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