Porokeratotic Eccrine Ostial And Dermal Duct Nevus Research Articles

A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the GJB2 locus. Only four GJB2 mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18-year-old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella-like tiers at the opening of the eccrine secretory ducts. Whole-exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in GJB2. In summary, this study presents a case of PEODDN with compound heterozygous mutations in GJB2, which broadens the genetic spectrum of this disease entity and implies a possible role for second-hit mutations in the pathogenesis of PEODDN.

33701 Porokeratotic eccrine ostial and dermal duct nevus caused by a second-hit postzygotic GJB2 mutation

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko which predominantly affects the extremities, and the disease has recently been linked to GJB2 somatic mutations. To the best of our knowledge, only four mutations have been documented from GJB2 in pure PEODDN cases. Herein, we reported an 18-year-old female who presented with a hyperkeratotic plaque on the dorsal side of the proximal interphalangeal joint of her right ring finger as well as multiple small linear hyperkeratotic papules distributed over the lateral side of her her right index, middle and ring fingers noted since her birth. Histopathologic study revealed prominent parakeratotic cornoid lamella-like tiers at the opening of eccrine secretory ducts. Sanger sequencing focusing on the GJB2 gene revealed a germline heterozygous missense mutation, c.608T>C (p.Ile203Thr) in the blood and the epidermal tissue of the affected skin. Whole exome sequencing (WES) on the genomic DNA extracted from the lesional epidermis identified another second-hit postzygotic somatic reported missense mutation, c.263C>A (p.Ala88Glu) with low mosaic percentage of around 4% and reflecting the dilutional effect in biopsy of whole tissue and limit of detection by Sanger sequencing. In conclusion, this study presents a case of PEODDN with a complete genetic study identifying a germline mutation and a second-hit postzygotic somatic mutation; our findings strengthen the importance of second- hit somatic mutation in GJB2 as an etiology in PEODDN.

Porokeratotic eccrine ostial and dermal duct nevus: A rare case report

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon benign disorder that clinically mimicks comedo nevus but usually favors the palms and soles, where pilosebaceous follicles are absent. It also can present with widespread involvement along Blaschko's lines. It is a disorder of keratinisation involving the intraepidermal eccrine duct (acrosyringium) with classical histopathological examination findings (eccrine hamartoma and cornoid lamellation). The patient is a 32-year-old woman with a 12-year history of pruritic skin lesions on her right palm and index finger. Histopathological examination revealed multiple small epidermal invaginations with overlying parakeratotic cornoid lamellation and loss of granular layer. Few dyskeratotic cells are seen at the base of epidermal invagination. After clinic-pathologic correlation, the diagnosis of PEODDN was made. Late-onset and rare clinical presentation as pruritic lesion are the characteristic features that make this patient an extraordinary presentation of PEODDN.

Porokeratotic eccrine ostial and dermal duct nevus with extensive linear distribution: a case report

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is known as an uncommon disorder of keratinization in which acrosyringium is involved; however, its causes have yet remained unknown. It is presented clinically by discrete keratotic papules on distal extremities arranged in a linear pattern along Blaschko lines. Histopathologically, it is characterized by cornoid lamella, which is almost always located overlying an acrosyringium. We present a case with an unusual presentation of extensive PEODDN lesions along the lower extremity. Our case was a young woman presented with multiple keratotic elevated papules on her left sole since her birth. In continuity with the lesions on her sole, a linear plaque was extended up to her buttock. Histopathology showed hyperkeratosis with cornoid lamella overlying the acrosyringium. The rarity of PEODDN and interesting presentation of the lesions on the sole of our patient with extension in a linear Blaschko pattern up to her buttock resembling verrucous linear epidermal nevus encouraged us to present this case.

Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as 'comedo nevus' and renamed 'PEODDN'; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair follicle nevus, and porokeratotic adnexal ostial nevus. PEODDN is usually present at birth or develops early in life. Rarely, PEODDN can develop in adults. The treatment of this puzzling condition is not standardized. We report herein a new case of adultonset PEODDN with dermatoscopic images. Our patient responded favorably to topical tazarotene.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus and Porokeratotic Eccrine and Hair Follicle Nevus: Is Nomenclature "Porokeratotic Adnexal Ostial Nevus" More Appropriate?

Porokeratotic Eccrine Ostial and Dermal Duct Nevus and Porokeratotic Eccrine and Hair Follicle Nevus: Is Nomenclature "Porokeratotic Adnexal Ostial Nevus" More Appropriate?

Metastatic squamous cell carcinoma arising from a serious widespread porokeratotic eccrine ostial and dermal duct nevus: Case report and literature review

Abstract Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare benign skin disease. Widespread involvement of PEODDN is more uncommon and its association with squamous cell carcinoma (SCC) is also rare. In this case report, we present the case of a 50-year-old woman with serious widespread PEODDN along Blaschko's lines and concomitant invasive SCC with lymph node metastasis. This was the first reported case of metastatic SCC arising from PEODDN.

Topical Keratolytics for a Case of Porokeratotic Eccrine Ostial and Dermal Duct Nevus

Porokeratotic Eccrine Ostial and Dermal Duct Nevus (PEODDN) is a rare disorder of keratinization characterized by the presence of cornoid lamellae and association with eccrine sweat ducts. These lesions are usually benign and asymptomatic, so treatment is often for cosmetic purposes. Current therapies for PEODDN are either insufficient or impractical. We present a case of PEODDN treated with topical tretinoin 0.05% cream and 5-fluorouracil 5% cream with the hopes of providing an efficacious, financially relevant, and well-tolerated treatment regime for PEODDN. The combination of topical tretinoin and 5-fluorouracil did not provide substantial improvement in the lesions of a patient treated with this therapy for 6 weeks, and further studies are needed to identify an efficacious treatment for PEODDN that is both well-tolerated and economically feasible for patients with this condition.

Porokeratotic eccrine ostial and dermal duct nevus

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare nevoid condition characterized by asymptomatic grouped keratotic papules and plaques with a linear pattern on the extremities, having distinct porokeratotic histopathological features. The lesions usually present at birth or in childhood. We present here a case of late-onset PEODDN in a 23-year-old man who had lesions on the palm, forearm, arm and the chest along the lines of Blaschko, strictly localized to the left side of the body.

Porokeratotic eccrine ostial and dermal duct nevus - revisited

We hereby report a rare case of a 14-year-old girl presenting with asymptomatic pitted papules over the flexor aspect of her right 4th and 5th digits. This was histopathologically proven to be porokeratotic eccrine ostial and dermal duct nevus (PEODDN).

Porokeratotic Eccrine Ostial and Dermal Duct Nevus

PEODDN is a rare benign cutaneous disorder that clinically resembles comedo nevus but favors the palms and soles, where pilosebaceous follicles are absent. Widespread involvement along Blaschko's lines can also occur. It is a disorder of keratinization involving the intraepidermal eccrine duct (acrosyringium) and is characterized by eccrine hamartoma and cornoid lamellation in pathology. The patient is a 29-year-old man with an 8-year history of pruritic skin lesions on his right lateral ankle. In the pathologic examination, multiple small epidermal invagination with overlying parakeratotic cornoid lamellation, loss of granular layer, and few dyskeratotic cells at the base of epidermal invagination are revealed. After clinic-pathologic correlation, the diagnosis of porokeratotic eccrine ostial and dermal duct nevus (PEODDN) was made. Late-onset and rare clinical presentation as pruritic lesion are the characteristic features that make this patient an extraordinary presentation of PEODDN.

Ultrapulse Carbon Dioxide Laser Treatment of Porokeratotic Eccrine Ostial and Dermal Duct Nevus

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare, benign, cutaneous hamartoma. Approximately 45 cases of PEODDN have been reported, with little information regarding treatment. We report a patient with PEODDN treated successfully using an ultrapulse carbon dioxide laser.

Multiple keratotic papules on palm

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare nonhereditary malformation of the eccrine duct. A relationship with linear porokeratosis is not yet established; some consider it as a rare variant of porokeratosis involving the acrosyringium, whereas others consider it a separate entity based on distinctive clinical features and histologic accentuation within ostial structures. A 7-year-old girl presented with multiple asymptomatic keratotic papules over her right palm, present since the age of 6 months. These papules were arranged in a linear distribution over the palm and middle finger of the right hand. Most of the papules were discrete. However, lesions on the middle finger coalesced to form a plaque. Histology revealed a keratin filled deep invagination of the epidermis, notable for a column of parakeratosis ("cornoid lamella"). The dermis was notable for dilated eccrine ducts and absent inflammation. Considering the clinical and histological evidence, a diagnosis of PEODDN was made. Its clinical resemblance to linear lichen planus and linear porokeratosis is discussed. Also, we provide a brief review of this rare condition.

Porokeratotic eccrine ostial and dermal duct nevus treated with a combination erbium/CO laser: A case and brief review

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon disease that presents early in childhood and is characterized by keratotic papules, often in a linear configuration. We describe a 12-year-old girl with characteristic lesions of PEODDN and describe her response to treatment with a combination CO2/Erbium laser. We also briefly review the literature on PEODDN.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus Showing Partial Remission by Topical Photodynamic Therapy

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon, benign dermatosis and is characterized by asymptomatic grouped keratotic papules and plaques with a linear pattern on the extremities. Various treatments, including topical steroids, topical calcipotriol, topical 5-fluorouracil, retinoid, cryotherapy, and carbon dioxide laser ablation have been tried for PEODDN, but the results were unsatisfactory. Recently, topical photodynamic therapy (PDT) has been shown to be effective for various cutaneous disorders. We report a case of PEODDN showing partial remission with PDT using topical 5-aminolevulanic acid in a 4-year-old girl.

Porokeratotic eccrine ostial and dermal duct nevus

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare variant of porokeratosis with characteristic histological feature of cornoid lamella involving the acrosyringium. We report a classic case of a 20-year-old male, who clinically presented to us with keratotic papules and plaque with pits, few having comedo like plugs, on right palm and sole since 1 year of age. A punch biopsy from palm was diagnostic as well as confirmatory showing cornoid lamella involving an eccrine duct which is the characteristic histopathological feature of PEODDN.

Porokeratotic eccrine ostial and dermal duct naevus: report of 10 cases

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a congenital hamartoma that has rarely been documented. To describe the clinical and histological features of 10 patients with PEODDN. A retrospective study of 10 patients with PEODDN attended in our paediatric hospital between 1999 and 2009 was performed. The clinical and histopathological features were reviewed. Nine children and one adult were included in the study. In 6 cases the lesion was present at birth and they were unique in 5 cases and systematized in the other 5 cases. Two cases in the same family are reported. The lesions were most commonly found on the extremities, although the palms or soles were involved in 9 cases and only in one case there was not affection of this area. The lesions were mostly asymptomatic but there was moderate itching in two cases. Clinical examination revealed no extracutaneous involvement. PEODDN is a rare disorder that usually appears at birth or early childhood. It has a linear distribution following the Blaschko lines. To our knowledge this is the largest series reported in English literature and we also describe the first family case.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of 2 Cases and Review of the Literature

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare disorder of keratinization involving the intraepidermal eccrine duct (acrosyringium). We detail two examples of this unique clinicopathological entity--one with a more typical clinical presentation and one with a solitary lesion and late adult onset. In addition, we discuss the distinctive histologic and immunohistochemical findings and review the literature.

Bilateral Systematized Porokeratotic Eccrine Ostial and Dermal Duct Nevus with Unilateral Breast Hypoplasia

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare hamartomatous malformation of the eccrine duct which typically presents at birth or early in life. Multiple punctate pits and verrucous papules and plaques with nonfollicular hyperkeratotic spines are seen over the palms and soles and may extend to the distal extremities. A linear distribution may be present. A wide range of involvement has been reported in the literature, including bilateral systematized involvement. No systemic involvement has been linked to PEODDN to date. Histologic findings are characteristic and include a dilated eccrine acrosyringium with an overlying parakeratotic column or cornoid lamella. There is slight dyskeratosis and loss of the granular layer under the cornoid lamella. Here, we present a case of bilateral systematized PEODDN in an otherwise healthy, 18 year‐old Hispanic female. Physical examination is notable for marked hypoplasia of the left breast with overlying verrucous papules and plaques. Multiple punch biopsies were performed and showed findings diagnostic of PEODDN. To our knowledge, this is the most extensive involvement of PEODDN reported in the literature to date and the only case with associated hypoplasia of the breast.

Linear psoriasis with porokeratotic eccrine ostial and dermal duct nevus

Linear psoriasis is an uncommon form of psoriasis characterized by the linear distribution of the psoriatic lesions. It usually follows the lines of Blaschko with unilateral involvement. Poro keratotic eccrine ostial and dermal duct (PEODD) nevus is another rare dermatosis that follows Blaschko's line. The pathogenesis of linear psoriasis and PEODD nevus is unclear, but both could be best explained by a specific somatic mutation. Hence, it has been suggested that the mutation responsible for PEODD nevus would constitute a rare but critical psoriasis gene. In the literature, 1 case of linear psoriasis with PEODD nevus was reported, which may support this suggestion. This article describes another case of linear psoriasis and PEODD nevus. A 7-year-old boy had a 4-month history of multiple psoriasiform plaques, arranged in linear distribution, and had congenital linear hyperkeratotic papules and pits on the right side of his trunk and right arm.