Presentations of Cutaneous Disease in Various Skin Pigmentations: Porokeratosis.

Description Porokeratosis was first described in 1893. It is a relatively rare disorder with over 9 subtypes. Lesions are clinically characterized as well-demarcated, erythematous papules (raised, <1 cm) or plaques (raised, >1 cm), with an atrophic center, and raised scaly border. Porokeratosis is an important diagnosis to identify because it may undergo malignant transformation and mimics many commonly encountered diagnoses. These commonly mimicked diagnoses include squamous cell carcinoma, tinea corporis, nummular dermatitis, and psoriasis vulgaris, to name a few. The clinical images in this review focus on identifying porokeratosis along the full spectrum of skin tones.

Bilateral Linear Porokeratosis Treated With Topical Lovastatin 2% Monotherapy.

Linear porokeratosis is a rare skin disorder that presents along dermatomal or Blashko lines. While the mechanism of linear porokeratosis formation is unknown, both disrupted cholesterol synthesis and mevalonate accumulation have been proposed as possible theories. There is a small chance of transforming into cutaneous malignancies, most commonly squamous cell carcinomas. The patient is a 61-year-old male with an unusual presentation of bilateral linear porokeratosis. His condition provided a unique opportunity to compare the efficacy of topical treatments in a single individual. A previous trial had successfully cleared the porokeratosis plaques with topical cholesterol 2%/lovastatin 2% on the patient's right arm. After a 12-week trial of topical lovastatin 2% monotherapy on the left arm, our current study demonstrated a comparable reduction of porokeratosis lesions. In our PubMed search, there has been a single reported case of disseminated superficial actinic porokeratosis successfully treated with topical lovastatin 2% monotherapy, but there have not been any reported cases of linear porokeratosis treated with this therapy. While topical lovastatin monotherapy for porokeratosis subvariants requires further studies, this case demonstrates similar efficacy of treating linear porokeratosis with topical lovastatin compared to cholesterol/lovastatin dual therapy. These findings support the theory of mevalonate accumulation as a more likely cause of linear porokeratosis compared to disruption of cholesterol synthesis.

Linear porokeratosis of the foot with dermoscopic manifestations: A case report.

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.

Bilateral Linear Porokeratosis Treated With Topical Cholesterol 2%/Lovastatin 2.

Linear porokeratosis is a cutaneous disorder that typically presents in a unilateral linear formation. While the exact cause of linear porokeratosis is unknown, it is thought to be a downstream effect of disrupted cholesterol synthesis and mevalonate accumulation. Our patient is a 61-year-old male with an unusual case presentation of bilateral linear porokeratosis. He had failed numerous standard therapies. Pathologic examination of a skin biopsy was consistent with bilateral linear porokeratosis. Through a PubMed search, there have been limited reported cases of unilateral linear porokeratosis, but there have not been any reported cases of bilateral linear porokeratosis. There are currently limited therapies with satisfactory outcomes for variants of porokeratosis. While there are some studies on the topical application of cholesterol/lovastatin, limited studies have been performed on the linear form. Our study evaluates the efficacy of compounded topical cholesterol 2%/lovastatin 2% ointment on bilateral linear porokeratosis. The patient demonstrated a significant reduction of porokeratotic lesions on the treated arm compared to the untreated arm. Cholesterol/lovastatin is alternative therapy that can be considered in the treatment of linear porokeratosis and other porokeratosis variants.

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.

Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho-genetic mechanism for the development of the lesions. However, the molecular mechanism leading to development of porokeratosis plantaris, palmaris et disseminata is not known. This study analysed a cohort of 4 patients with linear porokeratosis and 3 patients with porokeratosis plantaris, palmaris et disseminata, and performed mutation analyses of DNA extracted from blood samples and skin biopsies. All of the study patients carried the heterozygous germline variant c.70+5G>A in the MVD gene. Loss of heterozygosity due to a second hit mutation was found in affected skin of 3 patients with linear porokeratosis and 2 patients with porokeratosis plantaris, palmaris et disseminata. These results suggest that porokeratosis plantaris, palmaris et disseminata shares the same pathogenetic mechanism as other porokeratosis subtypes and belongs to the phenotypic spectrum of MVD-associated porokeratosis.

Linear porokeratosis with bone abnormalities treated with compounded topical 2% cholesterol/2% lovastatin ointment.

We describe a case of linear porokeratosis with associated bone resorption in a 17-year-old female with marked improvement after 2% cholesterol/2% lovastatin ointment application. Porokeratosis is a heterogenous group of keratinization disorders characterized by a cornoid lamella, consisting of focal dyskeratotic cells in the granular layer and columns of parakeratosis. The pathogenesis of porokeratosis is not fully elucidated; however, germline mutations have recently been identified in the mevalonate pathway which can lead to a buildup of metabolites that could play a role in dysmaturation. There has only been one prior report of an affected distal digit with underlying bone resorption in association with linear porokeratosis.

Generalized type 2 segmental disseminated superficial actinic porokeratosis coexisted with multiple cutaneous squamous cell carcinomas: Analysis of two cases.

Porokeratosis (PK) is defined as hyperpigmented macules or patches with a distinctive, ridge-like hyperkeratotic border which is histologically characterized by a cornoid lamella. Here, we report two cases of linear porokeratosis which converted to multiple cutaneous squamous cell carcinoma after long history progression. In addition, patient 2 was accompanied by secondary dermal amyloid deposits, which was rare reported.

Linear porokeratosis presenting in adulthood: A diagnostic challenge: A case report.

Linear porokeratosis is a rare variant of porokeratosis that most often presents in newborns and children; development of this porokeratosis variant in adulthood is far less common. We report the case of a 25-year-old female who presented with a progressive eruption on the proximal upper extremity of 6-year duration, which was ultimately diagnosed as adult-onset linear porokeratosis and safely treated with oral isotretinoin. We propose that a sporadic mutation resulting in mosaicism after birth may explain the development of linear porokeratosis in adulthood, although the exact trigger of such a somatic mutation is not known. This case also describes a unique clinical presentation, with linear porokeratosis lesions originating on the proximal extremity rather than on the more common distal extremity. This demonstrates a distinctive clinical presentation not seen in the pediatric forms of disease.

Porokeratosis: A Review of Its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment. / Poroqueratosis. Revisión de su etiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento.

Porokeratosis comprises a group of heterogeneous and uncommon acquired or congenital skin diseases of unknown origin characterized by a keratinization disorder resulting from abnormal clonal expansion of keratinocytes. Numerous genetic mutations are thought to be involved. These conditions are characterized histologically by the presence of a cornoid lamella. Clinical manifestations are variable, with localized, disseminated, and even eruptive forms. Porokeratosis has been associated with immunosuppression, ultraviolet radiation, and systemic, infectious, and neoplastic diseases. Many authors consider it to be a premalignant condition because of the potential for malignant transformation to squamous cell or basal cell carcinoma. Therefore, long-term follow-up is a key component of treatment, which is usually complex and often unsatisfactory. We review the latest advances in our understanding of the pathogenesis, diagnosis, and treatment and propose a treatment algorithm.

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

BACKGROUND: Porokeratosis is associated with mevalonate pathway gene mutations. Therapeutic options are few and often limited in efficacy. We hypothesized that topical therapy that aims to replenish cholesterol, an essential mevalonate pathway end-product, and block the accumulation of mevalonate pathway toxic metabolites could alleviate porokeratosis. OBJECTIVE: To study the efficacy of topical cholesterol/lovastatin in different variants of porokeratosis. METHODS: We enrolled a series of 5 porokeratosis patients,1 with disseminated superficial actinic porokeratosis, 2 with porokeratosis palmaris et plantaris disseminata, and 2 with linear porokeratosis. Patients were genotyped before initiation of therapy. Patients then applied topical cholesterol/lovastatin twice daily to a unilaterally defined treatment area for up to 3 months. The response was evaluated and patients photographed at every visit. RESULTS: Three patients had MVD mutations, and 2 patients had PMVK mutations. Treatment with topical cholesterol/lovastatin (but not cholesterol alone) resulted in near complete clearance of disseminated superficial actinic porokeratosis lesions after 4 weeks of therapy and moderate improvement of porokeratosis palmaris et plantaris disseminata lesions and linear porokeratosis lesions. There were no adverse events. LIMITATIONS: Case series design with a small number of patients. CONCLUSION: Topical cholesterol/lovastatin is an effective and well-tolerated therapy for porokeratosis that underscores the utility of a pathogenesis-based therapy that replaces deficient end products and prevents accumulation of potentially toxic precursors.

Linear porokeratosis associated with Bardet-Biedl syndrome: A case report.

This case report presents a 17-year-old boy with Bardet-Biedl syndrome (BBS) and a long-standing hyperpigmented eruption on the left trunk and upper extremity, clinically and histologically consistent with linear porokeratosis (LP). BBS patients frequently require solid organ transplant, and subsequent immunosuppression places them at especially high risk for malignant transformation of premalignant skin lesions such as LP. Although BBS affects multiple organ systems, there are only a handful of case reports detailing associated cutaneous involvement, and, to our knowledge, this is the first reported case of linear porokeratosis occurring in patient with BBS.

A Case of Serious Complication after Cryotherapy / 대한피부과학회지

Cryotherapy is a simple, relatively inexpensive therapeutic modality that is widely-used in clinical practice. It is especially appropriate for patients with an intolerance to anesthesia as well as high risk factors for developing hypertrophic scars after surgery. It can be applied to skin lesions located close to vital structures such as vessels and nerves. Potential side effects include pain, hemorrhage, edema, blisters, infection, hypopigmentation, and sensory damage. There are a numerous reports in the literature describing the side effects of cryotherapy. However, cases with severe complications have rarely been reported as yet. Herein, we report a case of serious complications of cryotherapy, a result of the course of treatment for linear porokeratosis.

A Case of Linear Porokeratosis Superimposed on Disseminated Superficial Actinic Porokeratosis / 대한피부과학회지

Porokeratosis is a group of genetic diseases characterized by clonal proliferation of keratinocytes. We report a 16-year-old female who presented with both linear porokeratosis and disseminated superficial actinic porokeratosis. The unusual coexistence of these two types of porokeratosis is an example of a type 2 segmental manifestation of an autosomal dominant skin disorder.

A case of linear porokeratosis superimposed on disseminated superficial actinic porokeratosis.

We present a female patient with linear porokeratosis of her right arm since childhood. At the age of 67 years she additionally developed disseminated superficial actinic porokeratosis (DSAP) involving both lower legs. This uncommon coexistence of two different types of porokeratosis fulfils the clinical criteria of a type 2 segmental manifestation of an autosomal dominant skin disorder, being superimposed on the ordinary nonsegmental lesions and reflecting loss of heterozygosity that occurred at an early developmental stage. In DSAP molecular evidence of this concept is so far lacking, but such proof has already been provided in several other autosomal dominant skin disorders. Molecular analysis of cases of type 2 segmental involvement may help elucidate the genetic defect causing DSAP.

A Case of Linear Porokeratosis on the Trunk / 대한피부과학회지

Porokeratosis is a genodermatosis that is characterized by abnormal epidermal keratinization with the histologic finding of a cornoid lamella. Linear porokeratosis is an uncommon variant that presents a characteristic linear nevoid distribution along the Blaschko's lines and linear porokeratosis has the highest potential for malignant degeneration of all the porokeratoses. Many treatment modalities have been used, but the treatment outcomes are variable and the treatments are poorly standardized. We report here on a case of linear porokeratosis in a 48-year-old female who showed localized, linear, brownish macules with a well-demarcated hyperkeratotic border on the left lower abdomen and back.

A Case of Basal Cell Carcinoma Arising in Linear Porokeratosis

Porokeratosis are characterized by distinct clinical findings of a keratotic ridge that corresponds to the cornoid lamella on histology and has well defined potential for malignancy. We report a case of basal cell carcinoma(BCC) arising in linear porokeratosis in a 77-yearold man.