Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis.

Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be confirmed by genetic testing. We present a 2-year-old girl who presented with erythematous and thick scaling skin. Her condition began at birth as multiple flaccid blisters that would easily break into erosions. There was no history of similar condition nor consanguinity within her family. Skin examination revealed diffuse erythematous skin covered with thick scales and erosion, predominantly on her face, extremities, palms, and soles. The skin histopathology examination showed diffuse parakeratosis with vacuolar and granular degeneration within granular and spinous layers along the epidermis. She was diagnosed with generalized EI with palmoplantar hyperkeratosis based on the clinical and histopathological examinations. Clinical improvement was observed after a one-month treatment with mupirocin cream, sodium bicarbonate bath, and moisturizer after bathing.

Epidermolytic hyperkeratosis of the vulva.

Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis.

A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.

Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional therapeutic optionfor acute pseudoainhum, and report the success ofsubsequent full thickness skin graft, suggesting thebenefit of this procedure as a therapeutic alternativefor patients with pseudoainhum.

Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.

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.

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.

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. Additionally, there were multiple remarkable foci of epidermolytic hyperkeratosis (EH). These foci both merged with superficial BCC or were sharply demarcated from the tumor. Retrospective molecular-biological examination of all the available material revealed HPV type 42 in both condyloma acuminatum and VaIN 3 specimen but not in the BCC associated with EH. To our best knowledge, involvement of the lower female genitalia by EH is a rare finding with six cases published to date. Awareness of EH in this location and its distinction is important because it may be potentially misinterpreted as a viral condyloma.

Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment.

We present the case of a 5-year-old boy who presented with systematized epidermal nevus with evidence of epidermolytic hyperkeratosis on skin biopsy. He was otherwise well, with normal growth and development and no evidence of other organ system involvement. He had experienced only mild improvement with potent topical corticosteroids. He reported more-marked improvement after 2 months of topical calcipotriol/betamethasone dipropionate combination ointment once a day to the lesions. Extensive epidermal nevi can lead to severe cosmetic disfigurement. We recommend a trial of topical calcipotriol/betamethasone dipropionate ointment for patients with extensive epidermal nevus not amenable to surgical treatment.

Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.

BACKGROUND: Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI. OBJECTIVES: We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity. MATERIALS AND METHODS: We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations. RESULTS: The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > C in KRT1 was detected in all nine patients. CONCLUSION: This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.

Noninvasive in vitro and in vivo assessment of epidermal hyperkeratosis and dermal fibrosis in atopic dermatitis.

Atopic dermatitis (AD) is characterized by hyperkeratosis of epidermis and fibrosis within dermis in chronic skin lesions. Thus far, the histology of skin lesions has been evaluated only by examination of excised specimens. A noninvasive in vivo tool is essential to evaluate the histopathological changes during the clinical course of AD. We used Cr:forsterite laser-based multimodality nonlinear microscopy to analyze the endogenous molecular signals, including third-harmonic generation (THG), second-harmonic generation (SHG), and two-photon fluorescence (TPF) from skin lesions in AD. Significant differences in thickness of epidermis and stratum corneum (SC), and modified degrees of fibrosis in dermis (measured by THG signals and SHG signals, respectively), are clearly demonstrated in in vitro studies. Increased TPF levels are positively associated with the levels of the THG signals from the SC. Our in vitro observations of histological changes are replicated in the in vivo studies. These findings were reproducible in skin lesions from human AD. For the first time, we demonstrate the feasibility of preclinical applications of Cr:forsterite laser-based nonlinear microscopy. Our findings suggest that the optical signatures of THG, TPF, and SHG can be used as molecular markers to assess the pathophysiological process of AD and the effects of local treatment.

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

Bullous congenital ichthyosiform erythroderma is an unusual type of inherited ichthyosis by mutations in the genes that encode K1 and K10. We report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported. This new mutation contributes to add to the catalog of bullous congenital ichthyosiform erythroderma mutations known.

Multiple nonmelanoma skin cancers in a patient with epidermolytic hyperkeratosis on long-standing retinoid therapy.

Epidermolytic hyperkeratosis is a rare genetic disorder of keratinization. In childhood, patients are erythrodermic and have a compromised stratum corneum, replaced with generalized hyperkeratosis as the patients age. Treatment consists of topical emollients as well as, topical and oral retinoids. Ultraviolet (UV) light, often in combination with psoralen ultraviolet A (PUVA) is widely used as a therapeutic modality for a multitude of hyperproliferative disorders. Although not strictly indicated for epidermolytic hyperkeratosis, it has been utilized as experimental treatment, particularly in the days prior to retinoids. Psoralen ultraviolet A has also been implicated in the development of nonmelanoma skin cancers, especially, squamous cell carcinoma (SCC). Retinoids are well-known to protect against nonmelanoma skin. A patient with epidermolytic hyperkeratosis with multiple nonmelanoma skin cancers, previously treated with PUVA and long-standing oral retinoids is reported.

Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets.

There are several reports of an association between ichthyosis and rickets based mainly on a causative relationship through the impaired ability of ichthyotic skin to synthesize vitamin D. Hypocalcemic vitamin D-resistant rickets represents a specific type of rickets that is attributed to vitamin D receptor defect rather than to vitamin D deficiency. Nevertheless, an extremely rare association between bullous congenital ichthyosiform erythroderma and hypocalcemic vitamin D-resistant rickets is presented.

Epidermolytic hyperkeratosis with rickets.

A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally. Nutritional rickets has been reported in children with various types of ichthyosis like lamellar and X-linked types. We report this case of epidermolytic hyperkeratosis with rickets for its rarity.

Incidental epidermolytic hyperkeratosis in progressive systemic sclerosis.

Incidental epidermolytic hyperkeratosis (EH) has been reported in a variety of lesions. We describe here incidental EH in a patient with progressive systemic sclerosis (PSS). We reviewed 108 skin biopsies from our cases of PSS and localized scleroderma, but this finding was seen only in the present case. Focal acantholytic dyskeratosis is analogous to EH, but we believe that this case is most consonant with EH. Since there has been no other report of EH in PSS, this association may be coincidental.

Disseminated epidermolytic acanthoma with disseminated superficial porokeratosis and verruca vulgaris in an immunosuppressed patient.

A 40-year-old man who had received long term immunosuppressive treatment for 14 years following kidney transplantation developed multiple skin lesions on both antecubital fossae, scalp, and both lower extremities. Histopathologic findings from three skin regions revealed characteristic features of epidermolytic hyperkeratosis, verruca vulgaris, and disseminated superficial porokeratosis, respectively. Although immunocompromised individuals may demonstrate verruca vulgaris or porokeratosis, disseminated epidermolytic acanthoma (DEA) has not been reported to be associated with immunosuppressed status. We suggest that immunosuppression may play a role in the pathogenesis of DEA, as shown in our case.