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JAMA Dermatology Feb 2023
Topics: Humans; Porokeratosis
PubMed: 36515921
DOI: 10.1001/jamadermatol.2022.5108 -
Journal of Cutaneous Pathology Apr 2023
Topics: Humans; Porokeratosis; Nivolumab; Drug Eruptions
PubMed: 36515632
DOI: 10.1111/cup.14379 -
The Journal of Dermatology Apr 2023Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic...
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.
Topics: Adolescent; Female; Humans; Eccrine Glands; Hamartoma; Keratosis; Mutation; Nevus; Parakeratosis; Porokeratosis; Skin Neoplasms; Sweat Gland Diseases
PubMed: 36478599
DOI: 10.1111/1346-8138.16662 -
SAGE Open Medical Case Reports 2022Genitogluteal porokeratosis is a rare localized disorder of keratinization. Due to the rarity of the case and non-specific keratotic lesion, it is often misdiagnosed...
Genitogluteal porokeratosis is a rare localized disorder of keratinization. Due to the rarity of the case and non-specific keratotic lesion, it is often misdiagnosed until a histological examination is performed. Treatment of this condition can be challenging, which comprises various topical and systemic drugs, lasers, cryotherapy, phototherapy, and also surgical intervention. Regular follow-up is necessary in the view of this disorder being a premalignant condition.
PubMed: 36467011
DOI: 10.1177/2050313X221139559 -
Journal of Yeungnam Medical Science Oct 2023Porokeratosis ptychotropica is an uncommon form of porokeratosis, which was initially described in 1995. It is clinically characterized by symmetrical reddish to...
Porokeratosis ptychotropica is an uncommon form of porokeratosis, which was initially described in 1995. It is clinically characterized by symmetrical reddish to brown-colored hyperkeratotic, verrucous, or psoriasiform plaques on the perianal and gluteal regions. The lesions tend to integrate and expand centrally, with small peripheral satellite lesions. Early skin biopsy and appropriate diagnosis are essential because malignant change occurs in 7.5% of porokeratotic lesions. Conventional treatment options include topical steroid, retinoid, imiquimod, 5-fluorouracil, isotretinoin, excimer laser, photodynamic therapy, intralesional steroid or bleomycin injection, cryotherapy, carbon dioxide (CO2) laser, and dermatome and excision, but none seem to achieve complete clearance. A 68-year-old woman presented with diffuse hyperkeratotic scaly lichenoid plaques on the buttocks that had persisted for several years. A skin biopsy of the buttocks revealed multiple cornoid lamellae and intense hyperkeratosis. There were some dyskeratotic cells beneath the cornoid lamellae and the granular layer was absent. Porokeratosis ptychotropica was diagnosed based on the characteristic clinical appearance and typical histopathological manifestations. She was treated with a CO2 laser in one session and topical application of urea and imiquimod cream for 1 month. The lesions slightly improved at the 1-month follow-up. We herein present a rare case of porokeratosis ptychotropica.
PubMed: 36464945
DOI: 10.12701/jyms.2022.00549 -
Medicine Nov 2022Porokeratosis ptychotropica represents an unusual form of porokeratosis characterized by symmetrical dyskeratotic skin lesions on the gluteal clefts. Herein, we report a...
RATIONALE
Porokeratosis ptychotropica represents an unusual form of porokeratosis characterized by symmetrical dyskeratotic skin lesions on the gluteal clefts. Herein, we report a case of porokeratosis ptychotropica.
PATIENT CONCERNS
A 33-year-old man, who complained of itching papules and plaques in the gluteal cleft and the buttocks for the last 7 years. Clinical examination showed a large well-defined reddish brown verrucous plaque located on both buttocks along with satellite papules on the inner thigh. Dermoscopy and histopathological findings were consistent with porokeratosis.
DIAGNOSIS
He was diagnosed with porokeratosis ptychotropica.
OUTCOMES
No significant improvement was observed following treatment with oral acitretin and a topical retinoid.
LESSONS
The case report highlights the need for awareness amongst dermatologists for porokeratosis ptychotropica as a differential diagnosis for pruritic papules in the gluteal fold.
Topics: Male; Humans; Adult; Porokeratosis; Buttocks; Thigh; Acitretin; Pruritus; Plaque, Amyloid
PubMed: 36451470
DOI: 10.1097/MD.0000000000032074 -
Pediatric Dermatology Nov 2022
Topics: Female; Humans; Child, Preschool; Buttocks; Skin Abnormalities
PubMed: 36440994
DOI: 10.1111/pde.15099 -
Actas Dermo-sifiliograficas Feb 2024
Review
Topics: Male; Humans; Porokeratosis; Scrotum; Buttocks
PubMed: 36423675
DOI: 10.1016/j.ad.2022.06.023 -
World Journal of Clinical Cases Nov 2022Porokeratosis (PK) is a common autosomal dominant chronic progressive dyskeratosis with various clinical manifestations. Based on clinical manifestations, porokeratosis...
BACKGROUND
Porokeratosis (PK) is a common autosomal dominant chronic progressive dyskeratosis with various clinical manifestations. Based on clinical manifestations, porokeratosis can be classified as porokeratosis of mibelli, disseminated superficial porokeratosis, disseminated superficial actinic porokeratosis, linear porokeratosis (LP), porokeratosis palmaris et plantaris disseminata, porokeratosis punctata, popular PK, hyperkeratosis PK, inflammatory PK, verrucous PK, and mixed types. We report a case of LP in a child and describe its dermoscopic findings.
CASE SUMMARY
Linear porokeratosis is a rare PK. The patient presented with unilateral keratinizing maculopapular rash of the foot in childhood. The patient underwent skin pathology and dermoscopy, and was treated with liquid nitrogen freezing and topical drugs.
CONCLUSION
From this case we take-away that LP is a rare disease, by the dermoscopic we can identify it.
PubMed: 36387824
DOI: 10.12998/wjcc.v10.i31.11585 -
Indian Journal of Dermatology 2022
PubMed: 36386089
DOI: 10.4103/ijd.ijd_897_21