KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

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.

Coexistence of Hidradenitis Suppurativa and Steatocystoma Multiplex: Is It a New Variant of Hidradenitis Suppurativa?

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.

A simple modified surgical technique combined with tissue adhesive for steatocystoma multiplex.

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.

Ultrasound Morphologic Features of Steatocystoma Multiplex With Clinical Correlation.

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.

Steatocystoma multiplex suppurativa associated with hidradenitis suppurativa successfully treated with adalimumab.

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.

Coexistence of steatocystoma multiplex and hidradenitis suppurativa: Assessment of this unique association by means of ultrasonography and Color Doppler.

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.

Steatocystoma multiplex: A case report of a rare entity

Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly disfiguring. One type of steatocystoma multiplex is known to be associated with the autosomal dominant inheritance of a mutation in the gene coding for keratin 17 (KRT17). In such cases, it is often concurrent with other developmental abnormalities of the ectoderm-derived tissues, such as the nails, hair, and teeth. To the best of our knowledge, few cases have been reported of steatocystoma multiplex of the oral and maxillofacial region. This report describes a case of steatocystoma multiplex of both sides of the neck and multiple dental anomalies, with a focus on its clinical, radiological, and histopathological characteristics, as well as the possibility that the patient exhibited the familial type of this condition.

Numerous asymptomatic dermal cysts: Diagnosis and treatment of steatocystoma multiplex.

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.

Síndrome de Jackson-Lawler. A propósito de un caso / Jackson-Lawler síndrome. A case report

Se presenta paciente masculino de 27 años de edad, de raza mestiza, con antecedentes de queratodermia plantar, que acude a consulta especializada de dermatología en el hospital clínico quirúrgico docente Celia Sánchez Manduley por exacerbación de las lesiones, acompañadas de dolor intenso al caminar; evidenciándose al examen físico la presencia de lesiones quísticas diseminadas, hipertrofia ungueal y alopecia. Se concluye caso como síndrome de Jackson-Lawler, resaltando su infrecuencia en el medio, la afectación de calidad de vida e impacto psicológico generada al paciente y la importancia del asesoramiento genético al mismo, con el fin de prevenir futuras generaciones afectadas(AU)

We present a 27-year-old male patient of mixed race, with a history of plantar keratoderma, who attended a specialized in the Celia Sánchez Manduley clinical teaching hospital due to exacerbation of the lesions, accompanied by severe pain when walking; the physical examination revealed the presence of disseminatedcystic lesions, nail hypertrophy and alopecia. The case is concluded as a Jackson-Lawler syndrome, highlighting its infrequence in the environment, the impact on the quality of life and the psychological impact generated on the patient and the importance of genetic counseling to them, in order to prevent future generations affected(EU)

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

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.