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Indian Dermatology Online Journal 2024
PubMed: 38283021
DOI: 10.4103/idoj.idoj_490_23 -
Clinical, Cosmetic and Investigational... 2023Epidermal cysts are common benign epithelial tumors. They are known to result from penetrating-type injuries or infection of human papillomavirus. The differential...
BACKGROUND
Epidermal cysts are common benign epithelial tumors. They are known to result from penetrating-type injuries or infection of human papillomavirus. The differential diagnosis commonly includes multiplex steatocystoma, lipoma, and neurofibroma. Pathological examination is essential for diagnosis, and surgical excision is the recommended treatment.
OBJECTIVE
We report a case in a man who presented with a cystic lesion on the scalp over 22 years to provide clinical evidence for mechanism of epidermal cysts. We conducted epidemiological analysis of 3949 patients with epidermal cysts to clarify the epidemiological characteristics and clinical features of epidermal cysts.
PATIENTS AND METHODS
A total of 3949 individuals with confirmed epidermal cysts were collected for analysis. Data were expressed as mean ± SEM and analyzed using Student's -test.
RESULTS
Our data showed that the mean age of diagnosis of males was statistically earlier than that of females (P<0.001), but no significant difference in sex predilection was observed (P=0.55). The high incidence age of males and females was in the young and middle stage. Lesion locations were a bit different among age groups, but the face was the most common site of epidermal cyst at all age stages.
CONCLUSION
Our case offers clinical evidence to the theory which refers trauma as one of the main causes of epidermal cysts in hair-bearing area. According to analysis of large number of samples, we can further support the idea that epidermal cyst has equal sex predilection and mainly occurs on the young and middle-aged adults. It is usually solitary and most likely to be found on face and trunk.
PubMed: 36919012
DOI: 10.2147/CCID.S399372 -
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 -
JAAD Case Reports Aug 2022
PubMed: 35899147
DOI: 10.1016/j.jdcr.2022.06.020 -
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 -
International Journal of Trichology 2022Eruptive vellus hair cyst (EVHC) is a rare follicular developmental abnormality of the vellus hair follicles. The usual onset is between 17 and 24 years but may be...
Eruptive vellus hair cyst (EVHC) is a rare follicular developmental abnormality of the vellus hair follicles. The usual onset is between 17 and 24 years but may be congenital. It can arise sporadically or may be inherited in an autosomal dominant fashion. They are caused by an abnormality at the infundibular level of vellus hairs. They usually appear as yellow to reddish-brown papules over the chest, limbs, and abdomen. Histologically, cyst has a stratified squamous epithelium and it contains lamellated keratin and several vellus hairs. We present this rare case of a 12-year-old male because of its unusual morphology and distribution and also to generate awareness about this rarely diagnosed condition. To the best of our knowledge, no case of an axillary variant of EVHC has been reported till date.
PubMed: 35300099
DOI: 10.4103/ijt.ijt_100_20 -
Indian Journal of Dermatology 2021
PubMed: 35068515
DOI: 10.4103/ijd.IJD_117_20 -
Journal of Cutaneous Medicine and... 2021Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in...
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.
Topics: Adult; Diagnosis, Differential; Female; Hidradenitis Suppurativa; Humans; Male; Steatocystoma Multiplex
PubMed: 33908804
DOI: 10.1177/12034754211010145 -
Taehan Yongsang Uihakhoe Chi Mar 2021To evaluate the ultrasonographic characteristics of steatocystomas focusing on the features that aid in differentiating them from epidermal inclusion cysts and lipomas.
PURPOSE
To evaluate the ultrasonographic characteristics of steatocystomas focusing on the features that aid in differentiating them from epidermal inclusion cysts and lipomas.
MATERIALS AND METHODS
The ultrasonographic findings of 14 histologically proven steatocystomas in 10 patients were retrospectively reviewed. The following features were assessed: the layer of involvement, shape, margin, echogenicity, posterior acoustic features, and the presence of a visible wall or intralesional striations. The findings were compared with those of subcutaneous lipomas and epidermal inclusion cysts to identify those findings that aid in the differential diagnosis of steatocystomas.
RESULTS
The majority of steatocystomas appeared as a subcutaneous mass ( = 6, 42.9%) or a mass involving both the dermal and subcutaneous layers ( = 6, 42.9%). Steatocystomas exhibited a well-defined smooth margin ( = 12, 85.7%) and homogeneous echogenicity ( = 9, 64.3%), and showed no specific posterior acoustic features ( = 9, 64.3%). The most important features that differentiated steatocystomas from epidermal inclusion cysts were a homogeneous internal echotexture ( = 0.009) and absent or less prominent posterior acoustic enhancement ( < 0.001). The features that distinguished steatocystomas from lipomas were the margin ( < 0.001), echogenicity ( = 0.034), internal echotexture ( = 0.004), and the absence of intralesional striations ( < 0.001).
CONCLUSION
Steatocystomas appeared as well-defined homogeneous masses with mild or absent posterior acoustic enhancement.
PubMed: 36238747
DOI: 10.3348/jksr.2019.0200 -
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