Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome

Porokeratotic eccrine ostial and dermal duct nevus is a rare hamartomatous malformation, histologically characterized by cornoid lamellae overlying dilated eccrine ostia. The nevus most commonly presents in the form of multiple filiform keratotic spines in a linear arrangement, usually on the distal extremities. Porokeratotic eccrine and hair follicle nevus is thought to be a variant of porokeratotic eccrine ostial and dermal duct nevus that additionally involves hair follicle infundibula. We report a case of widespread Porokeratotic eccrine and hair follicle nevus that developed in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome.     

Widespread porokeratotic eccrine ostial and dermal duct nevus along Blaschko lines

Porokeratotic eccrine ostial and dermal duct nevus is a congenital hamartoma of possible eccrine origin with no malignant potential. It is usually localized at the extremity of a single limb, while wider systematized distribution has rarely been documented. A child with an unusually widespread nevus following Blaschko lines is reported. The disorder had a striking presentation in the form of a systematized linear epidermal nevus composed of multiple tiny filiform keratotic spines, which histologically corresponded to columns of porokeratosis. Serial histopathologic sections of a 4-mm punch biopsy specimen barely demonstrated an anatomic relationship between the porokeratotic columns and the underlying acrosyringeal duct. This report provides further evidence of porokeratotic eccrine ostial and dermal duct nevus being distributed along Blaschko lines, thus confirming it is a peculiar epidermal nevus due to a mosaic cutaneous condition.     

Porokeratotic eccrine ostial and dermal duct nevus

A case of porokeratotic eccrine ostial and dermal duct nevus (PEODDN) affecting all 4 extremities is described. Clinically, palmo-plantar lesions resembled those of nevus comedonicus and the remaining lesions those of linear verrucous epidermal nevus. Histologically, all lesions were identical with cornoid lamellae in the eccrine ostia and epidermal ducts.     

汗孔角化性小汗腺孔和真皮导管痣

报告1例汗孔角化性小汗腺孔和真皮导管痣。患儿男,7岁。因手足和左膝关节内侧角化性丘疹和黑头粉刺样丘疹7年就诊。部分丘疹呈线状或带状排列（主要位于手足侧缘）。组织病理检查可见多个黑头粉刺样的表皮凹陷,内有角化不全柱。有些角化不全柱内可见扭曲的末端小汗腺导管穿过。角化不全柱的底部颗粒层变薄或消失,角质形成细胞空泡化,并可见角化不良细胞。角化不全柱下方的真皮内可见小汗腺导管。     

Porokeratotic eccrine ostial and dermal duct nevus: a case of systematized involvement

We describe a case of porokeratotic eccrine ostial and dermal duct nevus presenting as widespread, symmetrical lesions. To our knowledge, this represents the most extensive case of this entity reported to date. Both the localized and systematized variants of this nevoid condition are discussed.     

Palmar purpuric lichen nitidus—clinicopathological and dermoscopic findings

Lichen nitidus (LN) is an uncommon dermatosis of unknown etiology. LN confined to the palms is an unusual presentation and only a few cases have been reported. The clinical features may mimic pompholyx, pitted keratosis, and porokeratotic eccrine ostial and dermal duct nevus. We herein report a rare case of palmar purpuric LN with characteristic dermoscopic findings.     

Porokeratotic eccrine ostial and dermal duct nevus

A 6-year-old girl with congenital porokeratotic eccrine ostial and dermal duct nevus involving the palmoplantar surfaces (ie, the back of the hands and feet), the limbs, the neck, and the axillae is described. The clinical and histopathologic findings are presented. This entity should be taken into consideration in the differential diagnosis of linear keratotic cutaneous eruptions.     

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.     

A case of porokeratotic eccrine ostial and dermal duct naevus of late onset

We describe the case of a 21-year-old man with an 8-year history of porokeratotic eccrine ostial and dermal duct naevus (PEODDN) of late onset. The patient had pruritic, keratotic papules on the dorsal surface of his left hand, bilaterally on his palms and multiple yellowish lesions on the plantar surface of his feet. On histopathological examination cornoid lamella-like parakeratotic columns above eccrine sweat ducts were observed. The acrosyringium was also dilated. The lesions were refractory to treatment with salicylic acid in petrolatum and acitretin for 2 months. This entity should be taken into consideration in the differential diagnosis of linear keratotic cutaneous eruptions.     

皮脂腺痣继发肿瘤16例临床与组织病理分析

目的 探讨皮脂腺痣继发肿瘤的组织病理学特征。方法 回顾性分析所收集到的16例皮脂腺痣继发肿瘤患者的临床、病理资料和组织病理学特征。结果 ≥18岁12例,11 ~ 17岁4例。7例伴有乳头状汗管囊腺瘤,4例伴有管状顶泌汗腺腺瘤,3例伴有毛鞘瘤,2例伴有基底细胞癌,汗孔角化样汗孔和真皮导管痣及鲜红斑痣各1例。6例有1个以上的肿瘤,尤以乳头状汗管囊腺瘤伴管状顶泌汗腺腺瘤最多,占有4例。结论 皮脂腺痣基础上有任何继发肿瘤发生,都应密切关注。     

Porokeratotic eccrine ostial and dermal duct nevus

Porokeratotic eccrine ostial and dermal duct nevus is a rare disorder characterized by distinctive histopathology. We describe a 6-year-old boy who had the typical palmar involvement and small discrete areas involving the midline of his back.     

Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations

Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been reported, including one in association with the keratitis-ichthyosis-deafness (KID) syndrome (OMIM #148210), a rare disorder caused by mutations in the GJB2 gene coding for the gap junction protein connexin26 (Cx26). The molecular cause is, as yet, unknown. We have noted that PEN histopathology is shared by KID. The clinical appearance of PEN can resemble that of KID syndrome. Furthermore, a recent report of cutaneous mosaicism for a GJB2 mutation associated with KID describes linear hyperkeratotic skin lesions that might be consistent with PEN. From this, we hypothesized that PEN might be caused by Cx26 mutations associated with KID or similar gap junction disorders. Thus, we analyzed the GJB2 gene in skin samples from two patients referred with generalized PEN. In both, we found GJB2 mutations in the PEN lesions but not in unaffected skin or peripheral blood. One mutation was already known to cause the KID syndrome, and the other had not been previously associated with skin symptoms. We provide extensive functional data to support its pathogenicity. We conclude that PEN may be caused by mosaic GJB2 mutations.     

Porokeratotic eccrine ostial and dermal duct nevus

Comedo-like lesions of the palm, present since birth, are studied electronmicroscopically and their eccrine nature demonstrated. We suggest their inclusion under the name porokeratotic eccrine-ostial and dermal duct nevus previously proposed by Abell and Read.     

Spiny keratoderma of the palms: a case study

Spiny keratoderma of the palms is an infrequent entity of unknown etiology. Most of the cases described are acquired, but there are also family cases. This dermatosis is characterized by the appearance of hyperkeratotic, generally asymptomatic, projections on the palms and/or soles, measuring only a few millimeters. In the histological study, parakeratotic columns of cornoid lamellae were observed on an epidermis with a thin or absent granular layer. Its association with malignant tumor pathologies of different types has been described. We present a new case of this entity, which had the peculiarity of a relationship of the parakeratotic column with the acrosyringium in some histological sections, a finding typical of a porokeratotic eccrine ostial or dermal duct nevus.     

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.     

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings

Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. We compare this patient's phenotype with the only two other patients described with the same (G12R) mutation. The phenotypic heterogeneity of KID syndrome, inexplicable according to our current understanding of these proteins, speaks to the complexity of the connexin system and its overlapping expression patterns in different tissues.     

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

Abstract: 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.     

Porokeratotic eccrine ostial and dermal duct nevus

We report 2 cases of congenital porokeratotic eccrine nevus in a 5-year-old girl and a 7-year-old boy. The clinical manifestations were those of nevus comedonicus palmaris. The histologic picture consisted of comedo-like dilatations and cornoid lamellae involving the eccrine ostia and ducts. One of the cases showed anomalies in the dermal eccrine ducts. We believe that these lesions are eccrine hamartomas unrelated to porokeratosis. We review similar cases from the literature and discuss the differential diagnosis.     

Porokeratotic eccrine ostial and dermal duct nevus treated with a combination erbium/CO2 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.     

Case of dystrophic calcinosis cutis in epidermal cyst arising from verrucous epidermal nevus

Dystrophic calcinosis cutis is diagnosed when calcium is deposited into previously damaged tissue by connective tissue disease, panniculitis, pseudoxanthoma elasticum or trauma. We report a case of dystrophic calcinosis cutis arising from the lesion of an epidermal cyst on the verrucous epidermal nevus. A 20‐year‐old woman presented with a polypoid pinkish tumor on a brownish, verrucous plaque. Histopathological findings of the pinkish tumor showed calcium deposits as amorphous, basophilic material lining the true epidermis in the upper dermis, which were compatible with dystrophic calcinosis cutis and the plaque was diagnosed as a verrucous epidermal nevus.