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Cureus Aug 2022Steatocystoma multiplex is an uncommon disease consisting of multiple cysts erupting over the chest, arms, axilla, and neck. It is of unknown incidence and can occur as...
Steatocystoma multiplex is an uncommon disease consisting of multiple cysts erupting over the chest, arms, axilla, and neck. It is of unknown incidence and can occur as a spontaneous mutation or inherited in an autosomal dominant pattern. A 47-year-old female with a past medical history only significant for multiple skin infections presented for a routine mammogram. Her imaging showed multiple circumscribed oil cysts. When contacted regarding the results, the patient said she has noticed multiple cysts presenting on her inner arms, chest, and trunk, of which one would occasionally exsanguinate oily material. She denies any other associated symptoms and says that she is the only member of her family to have these symptoms. The patient was informed of her diagnosis and requested to follow up with her primary care physician to monitor her symptoms. In summary, steatocystoma multiplex is a rare benign condition that can present similarly to a variety of other pathologies. It is important to note the unique clinical features of steatocystoma multiplex in order to prevent unnecessary and costly workup for patients who have this benign condition.
PubMed: 36106249
DOI: 10.7759/cureus.27756 -
Anais Brasileiros de Dermatologia 2016Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of...
Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. This is the first case of steatocystoma multiplex suppurativa reported in the Brazilian literature. Female patient, 23 years old, with papular and nodular cystic lesions that started in the armpits and groin, later spreading to the trunk, lower limbs, anticubital fossa, face and scalp. The presence of papular-nodular lesions associated with disseminated hidradenitis-like lesions in flexural areas and the histopathological diagnosis of steatocystoma defined the diagnosis of steatocystoma multiplex suppurativa.
Topics: Biopsy; Diagnosis, Differential; Epidermal Cyst; Female; Hidradenitis Suppurativa; Humans; Rare Diseases; Sebaceous Glands; Steatocystoma Multiplex; Suppuration; Young Adult
PubMed: 28300893
DOI: 10.1590/abd1806-4841.20164539 -
Case Reports in Dermatology 2019Steatocystoma multiplex (SM) is a rare hamartomatous malformation of the pilosebaceous duct junction. Most cases of SM are sporadic, although less common autosomal...
Steatocystoma multiplex (SM) is a rare hamartomatous malformation of the pilosebaceous duct junction. Most cases of SM are sporadic, although less common autosomal dominant inherited forms have been reported. Steatocystoma multiplex suppurativa (SMS) is a much rarer inflammatory variant of SM, associated with severe inflammatory lesions resembling those of hidradenitis suppurativa. We describe herein a 28-year-old male with SMS who presented with extensive giant cysts on his neck, face, and scalp.
PubMed: 31011316
DOI: 10.1159/000498882 -
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.European Journal of Human Genetics :... Nov 2022We present the first pachyonychia congenita (PC) to involve all ectodermal derivatives and the first recessive KRT17-related PC in total seven members of two...
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.
Topics: Humans; Eyebrows; Hyperhidrosis; Keratin-17; Mutation; Nails, Malformed; Pachyonychia Congenita; Steatocystoma Multiplex; Tooth Abnormalities; Pedigree
PubMed: 35676340
DOI: 10.1038/s41431-022-01128-4 -
Molecular Medicine Reports Oct 2015Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with...
Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four‑generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree was also performed to investigate the KRT17 gene mutation and genotype‑phenotype correlation. Exon 1 of the KRTl7 gene was amplified using polymerase chain reaction (PCR) from genomic DNA obtained, which was obtained from 25 family members in the selected Chinese pedigree and from 100 unrelated control individuals. The DNA was then subjected to automatic DNA sequencing. Genealogical investigations demonstrated an autosomal dominant pattern, and direct sequencing of the PCR product revealed a heterozygous mutation, c.280C/T (R94C), which was located in exon 1 of the KRT17 gene in all 10 affected family members. The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals. Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance. A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.
Topics: Adult; Asian People; Base Sequence; Case-Control Studies; Exons; Female; Gene Expression; Genes, Dominant; Heterozygote; Humans; Keratin-17; Male; Molecular Sequence Data; Pedigree; Phenotype; Point Mutation; Steatocystoma Multiplex
PubMed: 26165312
DOI: 10.3892/mmr.2015.4063 -
Journal of Medical Case Reports Mar 2016Steatocystoma simplex is an uncommon skin lesion with a histological pattern that is identical to that of steatocystoma multiplex. We are reporting this case of...
BACKGROUND
Steatocystoma simplex is an uncommon skin lesion with a histological pattern that is identical to that of steatocystoma multiplex. We are reporting this case of steatocystoma simplex for its uncommon location in the penile foreskin, and its occurrence in a Wapishana man.
CASE PRESENTATION
A 56-year-old man of Wapishana ethnicity presented with complaints of referred penile discomfort and pain during sexual intercourse for 5 years. A physical examination revealed a mobile, compressible subcutaneous non-tender mass of 4 cm diameter located on the left-side of his penile foreskin. There were no signs of inflammation, no grip on the penile shaft, and no urethral discharge or enlargement of lymph nodes. We found no evidence of other cysts on cutaneous examination. We performed classical excision of the lesion under local anesthesia and confirmed the diagnosis of steatocystoma with the pathological report. As there were no complications, we discharged him the same day.
CONCLUSION
Steatocystoma can be considered a differential diagnosis for cystic lesions on and around the penis.
Topics: Epidermal Cyst; Foreskin; Humans; Male; Middle Aged; Penile Diseases
PubMed: 26951088
DOI: 10.1186/s13256-016-0845-3 -
Indian Dermatology Online Journal 2016Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia...
Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails. Follicular hyperkeratotic papules and steatocystoma multiplex were also observed over the scalp and face. The patient had history of natal teeth and on dental examination, lower central incisors were absent. All cutaneous changes in our case had manifested first in the 2(nd) decade except for natal teeth. All the above features suggested the diagnosis of pachyonychia congenita with late onset (PC tarda), which is an infrequently reported rare variant.
PubMed: 27559502
DOI: 10.4103/2229-5178.185463 -
Case Reports in Dermatological Medicine 2017. Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are uncommon benign tumors of the pilosebaceous unit. Both SM and EVHC are characterized by smooth,...
. Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are uncommon benign tumors of the pilosebaceous unit. Both SM and EVHC are characterized by smooth, asymptomatic papules or nodules, most commonly presenting on the chest, limbs, and abdomen. Most cases of SM and EVHC are sporadic, although less common autosomal dominant inherited forms have been reported. . In this report we present two cases of cutaneous cysts exhibiting characteristics of either SM or EVHC. Both patients presented with numerous 1-2 mm asymptomatic papules and responded well to surgical expression by incision and drainage (I&D). . SM and EVHC are similar in clinical presentation and management. Previously reported "hybrid-type" tumors present strong evidence for a relationship between the two lesions pathologically. Due to potential similarity of EVHC and SM cyst contents, I&D and subsequent microscopic examination cannot definitely differentiate between EVHC, SM, and hybrid cysts.
PubMed: 28480085
DOI: 10.1155/2017/3861972 -
Skin Appendage Disorders Sep 2020Steatocystoma multiplex (SM) is an autosomal dominant disorder developing in adolescence or early adult age. The occurrence of multiple asymptomatic cutaneous cysts on...
Steatocystoma multiplex (SM) is an autosomal dominant disorder developing in adolescence or early adult age. The occurrence of multiple asymptomatic cutaneous cysts on the axillae, groin, trunk, and limbs characterizes the disease. SM is associated with a missense mutation in the keratin 17 gene (KRT17), a gene encoding for a type I intermediate filament (keratin 17 [K17]), mainly expressed in the epithelial appendages (hair follicles and sebaceous glands). Here, we report a case of appearance of multiple steatocystomas in a psoriatic patient during ustekinumab treatment, an interleukin (IL)-12/IL-23 inhibitor. Our hypothesis is that ustekinumab could have unmasked a potential genetic predisposition to SM by reducing the expression of interferon-γ and IL-17/IL-22 and consequently acting on the K17 pathway.
PubMed: 33088817
DOI: 10.1159/000507657 -
International Journal of Trichology 2018Eruptive vellus hair cyst (EVHC) is a rare follicular developmental abnormality of the vellus hair follicles. They are usually seen in children, adolescents, or young...
Eruptive vellus hair cyst (EVHC) is a rare follicular developmental abnormality of the vellus hair follicles. They are usually seen in children, adolescents, or young adults and manifest as reddish-brown smooth papules most commonly involving the chest, limbs, and abdomen. An 18-year-old male presented with asymptomatic papules on the trunk and flexor aspect of both forearms for the past 2 years. There was no family history of similar lesions. His medical history was also not contributory. A clinical diagnosis of steatocystoma multiplex and chronic folliculitis was given, and a punch biopsy from the papule was performed and sent for histopathological examination. On microscopic examination, a final diagnosis of EVHC was rendered. The patient was advised topical treatment of retinoic acid cream (0.05%) for 6 months, and he is currently under follow-up period. Due to its rarity and resemblance to many similar entities, histopathological examination plays a major role in establishing a definite diagnosis and further proper management of the patient. We report this unusual case to generate awareness about this rarely diagnosed condition.
PubMed: 29440857
DOI: 10.4103/ijt.ijt_61_17