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    556 results match your criteria Epidermolytic Hyperkeratosis Bullous Congenital Ichthyosiform Erythroderma

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    Epidermolytic Ichthyosis Sine Epidermolysis.
    Am J Dermatopathol 2017 Jan 17. Epub 2017 Jan 17.
    *Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; †Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‡Department of Dermatology, Kirov State Medical Academy, Kirov, Russia; §Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; ¶Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‖INSERM UMR 1163, Imagine Institute, University Paris Descartes Sorbonne Cité, Paris, France; **Department of Genetics, Necker hospital for sick children, APHP, Paris, France; ††Department of Dermatology and Allergology, Ludwig-Maximilian-University, Munich, Germany; and Departments of ‡‡Pathology, §§Dermatology, and ¶¶Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.
    Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. Read More

    Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.
    Clin Cases Miner Bone Metab 2016 May-Aug;13(2):157-159. Epub 2016 Oct 5.
    The Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.
    Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. Read More

    Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
    Cancer Genet 2016 Nov 29;209(11):515-524. Epub 2016 Oct 29.
    People's Hospital of Xinjiang Uygur Autonomous Region, China.
    Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology. Read More

    [Multiple epidermolytic acanthomas of the genitalia].
    Ann Dermatol Venereol 2016 Oct 24. Epub 2016 Oct 24.
    Cabinet de dermatologie, 96, avenue de Saint-Ouen, 75018 Paris, France.
    Background: Epidermolytic hyperkeratosis presents a particular histological image common to several clinical pictures, including that of keratinopathic ichthyoses. It may also occur fortuitously in various tumoral and inflammatory lesions. It is the elementary histopathological lesion of epidermolytic acanthoma, which may either be single or multiple, and when it occurs in the genital area, is known as epidermolytic hyperkeratosis of the genitalia or multiple epidermolytic acanthoma of the genitalia. Read More

    Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.
    Pediatr Dermatol 2016 Nov 7;33(6):e346-e348. Epub 2016 Sep 7.
    Dermatology Department, Coimbra University Hospital, Coimbra, Portugal.
    Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis. Read More

    iRhom2 (Uncv) mutation blocks bulge stem cells assuming the fate of hair follicle.
    Arch Dermatol Res 2016 Sep 8;308(7):503-10. Epub 2016 Jul 8.
    Beijing Institute of Radiation Medicine, 27 Taiping Road, Haidian, Beijing, 100850, People's Republic of China.
    iRhom2 is necessary for maturation of TNFα-converting enzyme, which is required for the release of tumor necrosis factor. In the previous study, we found that the iRhom2 (Uncv) mutation in N-terminal cytoplasmic domain-encoding region (iRhom2 (Uncv) ) leads to aberrant hair shaft and inner root sheath differentiation, thus results in a hairless phenotype in homozygous iRhom2 (Uncv/Uncv) BALB/c mice. In this study, we found iRhom2 mutation decreased hair matrix proliferation, however, iRhom2 (Uncv/Uncv) mice displayed hyperproliferation and hyperkeratosis in the interfollicular epidermis along with hypertrophy in the sebaceous glands. Read More

    Presentation of epidermolytic acanthomas as multiple tan papules on the vulva.
    Proc (Bayl Univ Med Cent) 2016 Apr;29(2):198-9
    Texas A&M Health Science Center College of Medicine, Temple, Texas (Fletcher, Ramamurthi, Parekh) and Department of Dermatology, Baylor Scott & White, Temple, Texas (Fletcher, Parekh).
    Epidermolytic hyperkeratosis is a histological reaction pattern seen in a variety of disease processes, including epidermolytic ichthyosis, Vorner's epidermolytic palmoplantar keratoderma, epidermal nevus, and solitary epidermolytic acanthoma. Here we present the case of a 59-year-old woman with multiple asymptomatic papules on her vulva. Clinical differential diagnoses included condyloma acuminata, seborrheic keratoses, bowenoid papulosis, adnexal tumors, and papular acantholytic dyskeratosis. Read More

    Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).
    J Cutan Pathol 2016 May 4;43(5):434-7. Epub 2016 Apr 4.
    Department of Dermatology, Wilford Hall Ambulatory Surgical Center, Lackland AFB, TX, USA.
    Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. Read More

    Inherited ichthyosis: Non-syndromic forms.
    J Dermatol 2016 Mar;43(3):242-51
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Read More

    Management of Epidermolytic Ichthyosis in the Newborn.
    Neonatal Netw 2016 ;35(1):19-28
    Epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder. Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. Read More

    Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10.
    Am J Dermatopathol 2016 Feb;38(2):164-5
    *Department of Dermatology, Rambam Health Care Campus and the Ruth and Bruce Rappaport †Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel ‡Department of Dermatology, Sheba Medical Center, Tel Aviv, Israel.

    Linear Nevoid Epidermolytic Hyperkeratosis Localized to the Sole.
    Skinmed 2015 1;13(5):399-401. Epub 2015 Oct 1.
    Pathology, Chacha Nehru Bal Chikitsalaya (Children Hospital), Geeta Colony, Delhi 110032, India.
    The term epidermolytic hyperkeratosis, used synonymously for bullous ichthyosiform erythroderma, is in fact a histopathologic reaction pattern. Clinically, it may present as a generalized, localized, or palmoplantar variant. Generalized epidermolytic hyperkeratosis is a genetic disorder, while localized epidermolytic hyperkeratosis occurs sporadically as a result of mosaicism. Read More

    Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
    Acta Derm Venereol 2016 May;96(4):473-8
    Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.
    Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants. Read More

    A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.
    BMJ Case Rep 2015 Oct 22;2015. Epub 2015 Oct 22.
    Aarhus University Hospital, Aarhus N, Denmark.
    During recent years, inborn errors of human IL-17 immunity have been demonstrated to underlie primary immunodeficiencies with chronic mucocutaneous candidiasis (CMC). Various defects in receptors responsible for sensing of Candida albicans or downstream signalling to IL-17 may lead to susceptibility to Candida infection. While CMC is common in patients with profound T cell immunodeficiencies, CMC is also recognised as part of other immunodeficiencies in syndromic CMC, or as relatively isolated CMC disease. Read More

    Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.
    Case Rep Dermatol 2015 May-Aug;7(2):220-6. Epub 2015 Aug 19.
    Division of Dermatology, McGill University Health Centre, Montreal, Que., Canada.
    Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Read More

    Unilateral hyperkeratotic plaques along blaschko lines.
    Dermatol Online J 2015 Jul 15;21(7). Epub 2015 Jul 15.
    Katihar Medical College and Hospital, India.
    Epidermolytic ichthyosis (or epidermolytic hyperkeratosis) classically presents with erythroderma and increased fragility (blistering) at birth or soon thereafter. In later life, erythroderma and blistering improve gradually and the clinical picture is dominated by hyperkeratotic plaques in flexures and around joints. Linear epidermolytic hyperkeratosis is a unique, uncommon clinical variant and the absence of erythroderma and blistering are its hallmark. Read More

    Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
    Clin Exp Dermatol 2016 Apr 4;41(3):290-3. Epub 2015 Sep 4.
    St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
    Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants. We investigated an autosomal dominant pedigree with ichthyosis in which there was intrafamilial clinical heterogeneity, with the affected individual family members presenting with features of either erythrokeratoderma progressiva, annular EI, localized or superficial EI, or more generalized EI. Sanger sequencing identified a new heterozygous missense mutation (c. Read More

    Bilateral Systematized Epidermolytic Verrucous Epidermal Nevus: A Rare Entity.
    Indian J Dermatol 2015 Jul-Aug;60(4):397-9
    Department of Dermatology, Venereology and Leprosy, Medical College, Kolkata, India.
    Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia. The routine histology shows variable amount of hyperkeratosis, acanthosis and papillomatosis and rarely epidermolytic hyperkeratosis. Read More

    Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation.
    Vet Pathol 2016 May 4;53(3):614-20. Epub 2015 Aug 4.
    Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany
    The present study describes a generalized congenital skin condition in 14 Great Dane puppies. Macroscopically, all dogs showed generalized gray to yellow scaling and skin wrinkles on the head and all 4 extremities. Skin sections were histologically examined using hematoxylin and eosin, Heidenhain's Azan, and Sudan red III staining methods and by conducting the alcian blue/periodic acid Schiff (AB/PAS) reaction technique on sections. Read More

    Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.
    J Invest Dermatol 2015 Dec 15;135(12):3041-50. Epub 2015 Jun 15.
    Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut, USA.
    Epidermolytic ichthyosis (EI) due to KRT10 mutations is a rare, typically autosomal dominant, disorder characterized by generalized erythema and cutaneous blistering at birth followed by hyperkeratosis and less frequent blistering later in life. We identified two KRT10 mutations p.Q434del and p. Read More


    Vulvar dermatoses: a histopathologic review and classification of 183 cases.
    J Cutan Pathol 2015 Aug 25;42(8):510-8. Epub 2015 Jun 25.
    Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
    Background: Vulvar dermatoses are often difficult to classify due to histopathologic overlap. We aimed to report our experience at a single institution.

    Methods: A total of 183 non-neoplastic, non-infectious vulvar biopsies were reviewed. Read More

    Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease.
    J Eur Acad Dermatol Venereol 2016 May 22;30(5):847-51. Epub 2015 Apr 22.
    IDI-IRCCS, Biochemistry Laboratory, c/o Department of Experimental Medicine and Surgery, University of Rome "Tor Vergata", Rome, Italy.
    Background: Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10. We present two sporadic patients showing a mild diffuse ichthyosis with palmoplantar keratoderma. Interestingly, one of them shows a significant hyperkeratosis of palms and soles similar to those present in the Meleda disease (OMIM 248300). Read More

    Systematised epidermal nevus - a case report.
    J Clin Diagn Res 2015 Feb 1;9(2):WD01-2. Epub 2015 Feb 1.
    Consultant Dermatologisty, Chennai, India .
    A 20-year-old female presented with raised skin lesions all over the body since birth. Clinical examination revealed multiple pigmented macules and hyperkeratotic papules seen along Blaschko's lines over the face, neck, trunk and both lower limbs. Histopathological examination revealed hyperkeratosis with moderated acanthosis and uniform pigmentation over basal zone. Read More

    A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.
    Clin Exp Dermatol 2015 Dec 26;40(8):879-82. Epub 2015 Mar 26.
    Department of Dermatology, Second Hospital of Ji Lin University, Changchun, China.
    We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14-year-old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. Read More

    Coxsackie eruption arising in areas of epidermolytic ichthyosis.
    Pediatr Dermatol 2015 May-Jun;32(3):e132-3. Epub 2015 Mar 17.
    College of Medicine, University of Central Florida, Orlando, Florida.
    Coxsackie eruptions concentrated in areas of atopic dermatitis, a phenomenon termed "eczema coxsackium," has been well described in the literature but, to our knowledge, the concentration of coxsackie viral lesions to areas of ichthyosis has not been reported. This case describes a rare presentation of coxsackie viral lesions concentrated in areas of epidermolytic ichthyosis in a 3-year-old boy. Read More

    Cellular and biological evaluation and diagnostic immunohistochemistry of cytokeratin 15/19 expression in distinguishing cutaneous basal cell carcinoma.
    Biologicals 2015 May 5;43(3):181-5. Epub 2015 Mar 5.
    Department of Pathology, Imam Reza Hospital, AJA University of Medical Sciences, Tehran, Iran. Electronic address:
    Recent studies have investigated the expression of proliferative markers, but little is known about the expression of cytokeratin 15 and 19 in different histological subtypes of basal cell carcinoma (BCC). We conducted cellular, biological, clinicopathological and immunohistochemical analysis on the manifestations of 8 BCC by hematoxylin and eosin stain (H&E) staining and immunohistochemistry and reviewed relevant literature. Microscopically, the tumor cells were multiple remarkable foci of epidermolytic hyperkeratosis with large pleomorphic nuclei and scant cytoplasm together with peripheral palisading and forming solid nests. Read More


    Histologic features of alopecias: part II: scarring alopecias.
    Actas Dermosifiliogr 2015 May 24;106(4):260-70. Epub 2014 Oct 24.
    Servicio de Dermatología, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, España. Electronic address:
    The diagnosis of disorders of the hair and scalp can generally be made on clinical grounds, but clinical signs are not always diagnostic and in some cases more invasive techniques, such as a biopsy, may be necessary. This 2-part article is a detailed review of the histologic features of the main types of alopecia based on the traditional classification of these disorders into 2 major groups: scarring and nonscarring alopecias. Scarring alopecias are disorders in which the hair follicle is replaced by fibrous scar tissue, a process that leads to permanent hair loss. Read More

    Biopsy of different oral soft tissues lesions by KTP and diode laser: histological evaluation.
    ScientificWorldJournal 2014 27;2014:761704. Epub 2014 Oct 27.
    Department of Oral and Maxillofacial Sciences, "Sapienza" University of Rome, Via Caserta 6, 00161 Rome, Italy.
    Introduction: Oral biopsy aims to obtain clear and safe diagnosis; it can be performed by scalpel or laser. The controversy in this latter application is the thermal alteration due to tissue heating. The aim of this study is the histological evaluation of margins of "in vivo" biopsies collected by diode and KTP lasers. Read More

    Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
    Genet Mol Res 2014 Oct 7;13(4):8089-93. Epub 2014 Oct 7.
    Department of Internal Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China
    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. Read More

    Brown skin disease: A syndrome of dysecdysis in Puerto Rican crested toads (Peltophryne lemur).
    Zoo Biol 2014 Nov-Dec;33(6):558-64. Epub 2014 Sep 18.
    Toronto Zoo, Toronto, Ontario, Canada.
    The endangered Puerto Rican crested toad (Peltophryne [Bufo] lemur) has been held and bred in zoos for release into protected areas in Puerto Rico since 1982. In 2004, several cases of a novel syndrome of skin changes in toads were noticed at the Toronto Zoo. A total of 21 toads were found to have similar lesions and the condition has been seen in several other groups of toads in subsequent years. Read More

    Acantholytic Acanthoma of the Eyelid: Unusual Presentation.
    Ophthal Plast Reconstr Surg 2016 Jul-Aug;32(4):e94-5
    *Dalmia Ophthalmic Pathology Service, LV Prasad Eye Institute, Bhubaneswar, Odisha, India; and †Department of Ophthalmic Plastic Surgery, Orbit and Ocular Oncology, L V Prasad Eye Institute, Visakhapatnam, Andhra Pradesh, India.
    Acantholytic acanthoma is a benign epidermal tumor with a truncal predisposition and is not previously reported as an eyelid mass. A 63-year-old man, presented with a history of nodular masses of both his eyelid margin and eyelid surface of 3 years duration. Excision biopsy of lesion of eyelid margin was consistent with dermal nevus. Read More

    Expression of filaggrin-2 protein in the epidermis of human skin diseases: a comparative analysis with filaggrin.
    Biochem Biophys Res Commun 2014 Jun 9;449(1):100-6. Epub 2014 May 9.
    Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Sugitani, Toyama 930-0194, Japan.
    Filaggrin-2 is a member of the S100 fused-type protein family, and the structural features and expression of filaggrin-2 are similar to those of profilaggrin, a protein essential for keratinization. In the present study, we investigated the expression profile of filaggrin-2 in patients with skin diseases using antibodies against the repetitive region of filaggrin-2. In tissue samples from patients with skin diseases which are associated with a decrease in filaggrin, including ichthyosis vulgaris, atopic dermatitis and psoriasis vulgaris, the expression level of filaggrin-2 was markedly decreased compared to that in normal skin samples. Read More

    Epidermolytic hyperkeratosis of the vulva associated with basal cell carcinoma in a patient with vaginal condyloma acuminatum and vaginal intraepithelial neoplasia harboring HPV, type 42.
    Cesk Patol 2014 Apr;50(2):92-4
    The occurrence of basal cell carcinoma (BCC) of the vulva is rare. We report the case of a 79-year-old woman with a medical history of intravaginal condyloma acuminatum and vaginal intraepithelial neoplasia 3 (VaIN 3) who presented with a solitary whitish lesion sized 8x5 mm with a central desquamation located on the right labium majus. Histopathologic examination revealed a typical superficial and nodular BCC. Read More

    Loss of keratin K2 expression causes aberrant aggregation of K10, hyperkeratosis, and inflammation.
    J Invest Dermatol 2014 Oct 21;134(10):2579-88. Epub 2014 Apr 21.
    Department of Dermatology, Medical University of Vienna, Vienna, Austria.
    Keratin K2 is one of the most abundant structural proteins of the epidermis; however, its biological significance has remained elusive. Here we show that suprabasal type II keratins, K1 and K2, are expressed in a mutually exclusive manner at different body sites of the mouse, with K2 being confined to the ear, sole, and tail skin. Deletion of K2 caused acanthosis and hyperkeratosis of the ear and the tail epidermis, corneocyte fragility, increased transepidermal water loss, and local inflammation in the ear skin. Read More

    Anogenital epidermolytic acanthomas: effective treatment of pruritus with 0.1% tacrolimus ointment.
    Dermatol Ther 2014 Mar-Apr;27(2):113-6. Epub 2013 Jun 6.
    National Skin Centre, Singapore, Singapore.
    Epidermolytic acanthoma is an uncommon benign tumor with a predilection for the anogenital region, that is characterized histologically by epidermolytic hyperkeratosis. Most reported cases are asymptomatic while some are pruritic. Treatment of this condition is challenging and not well studied. Read More

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