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Archives of Biochemistry and Biophysics Apr 2011Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal scaffolding proteins that form intermediate filament networks, providing... (Review)
Review
Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal scaffolding proteins that form intermediate filament networks, providing structural support to keratinocytes that maintain the integrity of the skin. Expression of keratin genes is usually regulated by differentiation of the epidermal cells within the stratifying squamous epithelium. Amongst the 54 known functional keratin genes in humans, about 22 different genes including, the cornea, hair and hair follicle-specific keratins have been implicated in a wide range of hereditary diseases. The exact phenotype of each disease usually reflects the spatial expression level and the types of mutated keratin genes, the location of the mutations and their consequences at sub-cellular levels as well as other epigenetic and/or environmental factors. The identification of specific pathogenic mutations in keratin disorders formed the basis of our understanding that led to re-classification, improved diagnosis with prognostic implications, prenatal testing and genetic counseling in severe keratin genodermatoses. Molecular defects in cutaneous keratin genes encoding for keratin intermediate filaments (KIFs) causes keratinocytes and tissue-specific fragility, accounting for a large number of genetic disorders in human skin and its appendages. These diseases are characterized by keratinocytes fragility (cytolysis), intra-epidermal blistering, hyperkeratosis, and keratin filament aggregation in severely affected tissues. Examples include epidermolysis bullosa simplex (EBS; K5, K14), keratinopathic ichthyosis (KPI; K1, K2, K10) i.e. epidermolytic ichthyosis (EI; K1, K10) and ichthyosis bullosa of Siemens (IBS; K2), pachyonychia congenita (PC; K6a, K6b, K16, K17), epidermolytic palmo-plantar keratoderma (EPPK; K9, (K1)), monilethrix (K81, K83, K86), ectodermal dysplasia (ED; K85) and steatocystoma multiplex. These keratins also have been identified to have roles in apoptosis, cell proliferation, wound healing, tissue polarity and remodeling. This review summarizes and discusses the clinical, ultrastructural, molecular genetics and biochemical characteristics of a broad spectrum of keratin-related genodermatoses, with special clinical emphasis on EBS, EI and PC. We also highlight current and emerging model tools for prognostic future therapies. Hopefully, disease modeling and in-depth understanding of the molecular pathogenesis of the diseases may lead to the development of novel therapies for several hereditary cutaneous diseases.
Topics: Animals; Disease Models, Animal; Humans; Keratins; Mutation; Skin; Skin Diseases
PubMed: 21176769
DOI: 10.1016/j.abb.2010.12.019 -
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 -
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 -
Dermatology Online Journal Jun 2013Hidradenitis suppurativa (HS), a pathologic follicular disease, impacts patients' lives profoundly and usually occurs in isolation. The diseases with the strongest... (Review)
Review
Hidradenitis suppurativa (HS), a pathologic follicular disease, impacts patients' lives profoundly and usually occurs in isolation. The diseases with the strongest association are obesity, depression, and pain. HS is associated with many diseases including acne conglobata (AC), dissecting cellulitis, pilonidal cysts, and obesity. Pyoderma fistulans sinifica (fox den disease) appears to be the same entity as Hurley Stage 2 of 3 HS. The rate of acne vulgaris in HS patients mirrors unaffected controls. The most common, albeit still uncommon, association is with seronegative, haplotype unlinked arthritis (most importantly B27), in particular spondolyarthritis. Crohn disease and HS occur together at a rate that varies from 0.6% to 38% in retrospective cases series. Ulcerative colitis occurred with HS in 14% of patients in one series. The next most common association is with pyoderma gangrenosum, but this association is likely under-reported. Synovitis-Acne-Pustulosis Hyperostosis-Osteitis (SAPHO) syndrome, which is rare, has more than 10 reports linking it to HS. Nine case reports have linked Dowling-Degos disease (DDD) to HS and two reports related HS to Fox-Fordyce disease (FF), but because both occur in the axilla this might be a mere coincidence. HS is rarely associated with ophthalmic pathology. Specifically, more than 5 reports link it to Keratitis-Ichthyosis-Deafness syndrome (KID); greater than10 cases link it to interstitial keratitis and 2 cases are linked to Behçet's disease. The presence of proteinuria and acute nephritis link HS to the kidney, especially since and reports have documented resolution of HS after renal transplant. Florid steatocystoma multiplex, Sjogren Syndrome, and HS have been linked and their reports likely underestimate their coincidence because all these entities involve occlusion (albeit by different mechanisms). Three reports link HS and amyloid, but both share some common genetic underpinnings and thus the coincidence of these diseases is likely underreported. Pyoderma vegetans has been noted in 2 cases of HS and 4 cases of Inflammatory Bowel Disease (IBD) and is likely a clue to the linkage of the pathology of IBD and HS. Pityriasis rubra pilaris, in particular Type VI related to HIV, has a relationship more commonly with acne conglobata, but with HS also. Single case reports of diseases associated with HS include systemic lupus erythematosus, acromegaly, Down syndrome, Bazex-Dupre´-Christol, and prurtis ani, but these might be coincidences. Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA Syndrome) and Pyoderma gangrenosum, Acne, and Suppurative Hidradenitis (PASH Syndrome) are pyodermic-arthritic syndromes that are associated with HS. Erythema nodosum and granulomatous lobular mastitis have been reported with HS but the significance of these reports is uncertain. Because of scarring, HS can result in lymphedema including scrotal elephantiasis and verrucous lymphedema. HS is sometimes accompanied by obesity, hypertension, and anemia and can be considered a disease in the spectrum of metabolic syndrome, a skin disease with systemic consequences. HS, like other types of chronic inflammation when long standing in the perianal and perineal areas, can result in squamous cell cancer. A variety of drugs can induce HS. These include lithium, sirolimus, cyclosporine, vemurafenib, and oral contraceptives. Inverse psoriasis or psoriasis vulgaris as a side effect of infliximab therapy may be associated with HS. These associations aside, most cases of HS occur in isolation without coincident morbidity.
Topics: Acne Vulgaris; Acquired Hyperostosis Syndrome; Arthritis; Autoimmune Diseases; Cellulitis; Chronic Pain; Comorbidity; Depressive Disorder; Hair Follicle; Hidradenitis Suppurativa; Inflammatory Bowel Diseases; Keratosis; Metabolic Syndrome; Obesity; Pilonidal Sinus; Pyoderma Gangrenosum; Staphylococcal Skin Infections
PubMed: 24011308
DOI: No ID Found -
Postepy Dermatologii I Alergologii Feb 2020
PubMed: 32467696
DOI: 10.5114/ada.2018.78999 -
Journal of Clinical and Diagnostic... Jan 2013A 17 years old female presented with multiple asymptomatic cutaneous cysts all over body, sparing the head and neck region. The microscopic examination of the cysts...
A 17 years old female presented with multiple asymptomatic cutaneous cysts all over body, sparing the head and neck region. The microscopic examination of the cysts showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient. Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17, have been reported. We are reporting here, a case of steatocystoma multiplex in a 17 years old female, along with its review of literature.
PubMed: 23449619
DOI: 10.7860/JCDR/2012/4691.2698 -
Imaging Science in Dentistry Dec 2019Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although...
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 (). 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.
PubMed: 31915618
DOI: 10.5624/isd.2019.49.4.317 -
Acta Dermato-venereologica Mar 1997
Topics: Adolescent; Epidermal Cyst; Humans; Male; Neck; Skin Diseases
PubMed: 9111836
DOI: 10.2340/0001555577161 -
Indian Journal of Dermatology and... 1970
PubMed: 29160259
DOI: No ID Found -
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