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Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of about 1.17 per 100,000. The exact etiology of the disorder is not known but a dual influence of genetic and environmental factors may trigger the disease. We report the case of a 70-year-old male patient with punctate palmoplantar keratodermic lesions for...
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Mal de Meleda or Meleda’s disease, is an extremely rare inherited skin disorder characterized by progressive
cornification of the skin on the palms hands and soles of the feet (palmoplantar hyperkeratosis). The condition may also affect other areas of the skin, such as the face or extremities. It is an autosomal recessive disease that appears in in...
Palmoplantar keratodermas (PPKs) are a heterogeneous group of disorders characterized by thickening of the epidermis of the palms and soles. Clinically, three forms can be seen: Diffuse, focal, and punctate. Although usually manifesting on bilateral palms and soles, a unilateral presentation has been reported 1-3 .
Introduction:
The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis: striate, focal, diffuse...
Citations
... A similar association between punctate PPK type 1 and various types of malignancies, especially gastrointestinal cancers, has long been suggested [8,9]. This has led several authors to propose surveillance for malignancy in all individuals with PPPK1 [8,[10][11][12][13][14]. The suggested association between PPPK1 and malignancy is not well-established, making it difficult for clinicians to manage and counsel these patients. ...
Background:
An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for various types of malignancies while others caution that an association is not well-established. In this systematic review, we summarized and evaluated the current evidence for a possible association between PPPK1 and malignancy.
Methods:
The review was conducted along PRISMA guidelines. The search used Embase, MEDLINE, Scopus, and the Human Gene Mutation Database up to March 2022. All studies reporting on individuals with the diagnosis of PPPK1 with or without history of malignancy were included. Two authors screened for eligible studies, extracted predefined data, and performed a quality assessment.
Results:
Of 773 studies identified, 45 were included. Most studies were reports on single families (24 of 45 studies) or multiple families (10 of 45 studies). The number of index cases with PPPK1 across all included studies was 280, and when family members reported with PPPK1 were added, a total of 817 individuals were identified. Overall, 23 studies reported on individuals with PPPK1 with a history of malignancy, whereas 22 studies reported on individuals with PPPK1 without a history of malignancy. Although the extracted data were not considered to be of sufficient quality to synthesize and answer our research question, the review did not confirm an association between PPPK1 and malignancy.
Conclusion:
This review shows that there is a lack of well-designed studies on this topic to conclude whether individuals with PPPK1 have an increased risk of malignancy. Based on the present literature, however, we could not confirm an association between PPPK1 and malignancy and find it highly questionable if patients with PPPK1 should be offered surveillance for malignancies.
... It has been shown that ALDH1 expression correlates with growth and regenerative capacity in human and murine myogenic progenitor cells [1]. These results have been corroborated by experiments demonstrating high myogenic capacities and resistance to oxidative and inflammatory stress in ALDH1 expressing cells [2]. Most recently, Etienne et al. investigated various ALDH isoforms in different species and also included dystrophic muscle tissue from human and dog model system of DMD. ...
... Satellite cells (SCs) are the stem cells of skeletal muscle and therefore an important cell population for muscle growth and myotube formation. SCs are not only physiologically regulated through growth and differentiation signals, but also activated for regenerative responses by adverse stimuli, including inflammation or insults [2]. Interestingly, the enzyme aldehyde dehydrogenase 1 (ALDH1) plays a functional role both in differentiation by regulation of retinoic acid (RA) metabolism [7] and in detoxification of oxidative stress products [5]. ...
... Interestingly, the enzyme aldehyde dehydrogenase 1 (ALDH1) plays a functional role both in differentiation by regulation of retinoic acid (RA) metabolism [7] and in detoxification of oxidative stress products [5]. ALDH enzymatic activity has been attributed to SCs in experimental studies [2,3]. Thus, the enzyme ALDH1 could be a potential mediator between physiological mechanisms and regenerative processes of SC regulation. ...
Satellite cells (SC) constitute the stem cell population of skeletal muscle and conduct myogenic growth and differentiation. Recently, aldehyde dehydrogenase 1 (ALDH1) has been identified as a novel myogenic factor in experimental models of SCs. ALDH1 constitutes a subfamily of the ALDH enzyme super family. The enzymatic functions of ALDH1 isoforms include both protection against oxidative stress products and regulation of differentiation as pacemaker enzyme in retinoic acid signaling. Although ALDH enzymatic activity has been demonstrated in SCs it is not clear which isoforms are important in human skeletal muscle. Here, we show that ALDH1A1 and ALDH1A3 are expressed in human SCs. Using antibodies directed against ALDH1 and its isoforms ALDH1A1 and ALDH1A3, respectively, we demonstrate immunohistochemical staining in peri-fascicular position matching the localization of SCs. Consistently, co-immunofluorescence reveals ALDH1 expression in CD56 positive stem cells and co-localization of the isoforms ALDH1A1 and ALDH1A3 in Pax7 positive SCs. Quantitative analysis of immunohistochemical staining showed no significant differences in the distribution of ALDH1 positive SCs in the skeletal muscle groups pectoralis, diaphragm and psoas that have been investigated in the present study. In conclusion, human SCs co-express the ALDH1 isoforms ALDH1A1 and ALDH1A3.
... It can be hereditary or acquired. Hereditary PPK can be further classified into three major categories: diffuse, focal, and punctate PPK (PPPK) [2]. These diseases can be distinguished from each other on the basis of inheritance pattern, onset, distribution, morphology, severity, histopathological findings, additional dermatological findings, and systemic manifestations [3]. ...
... The lesions may evolve over time, becoming translucent, opaque, or verrucous. Some papules may form a keratotic core and detachment of the core may lead to a characteristic central depression [2]. Patients generally remain asymptomatic but rarely, pain can be caused by pressure [9]. ...
... Associated systemic involvement is rare. Studies have suggested possible associations between PPPK and lymphoma as well as malignancies of the pancreas, colon, breast, and kidney [2]. However, our patient has none of these malignancies. ...
Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands. The parents are non-consanguineous and none of his family members had similar lesions. Skin examination revealed multiple tiny keratotic pits on both palms. Punch skin biopsy from the palmar lesion revealed epidermal depression with an overlying column of compact orthokeratosis. Based on the above clinicopathological findings, a diagnosis of punctate palmoplantar keratoderma type 1 was made. The patient was started on 40% urea and 20% salicylic acid ointment for months but with little improvement.
... Punktat PPK tip 1 ilk olarak 1879 yılında bildirildi (1). 1910 yılında Buschke ve Fischer hastalığı tanımladı (2). Brauer 1913 yılında hastalığın kalıtımsal yönünü tanımladı ve o günden sonra hastalık "Buschke-Fischer-Brauer hastalığı" olarak anılmaya başlandı (3). ...
... [3] Electron microscopy reveals prominent nucleoli, increased tonofilaments in the stratum basale and keratohyaline granules in the upper spinous layer. [10] Electron microscopy was not done in our patient due to nonavailability. ...
... Striate keratoderma presents soon after birth with linear bands, areate or confluent areas of keratoderma raised well above the skin surface without the punctate lesions and occurs due to genetic mutation in one of the three genes encoding for desmoglein 1, desmoplakin or V1 domain of keratin 1. [11] Punctate palmoplantar keratoderma, on the other hand, has its onset after the first decade, and presents as keratotic papules or crateriform lesions or both. [10] As in our case, the lesions comprised of keratotic papules and crateriform (depressions) lesions arranged in a linear or striate pattern in line with the skin surface or hardly raised above the surface on the sole rather than a thickened plaque which is well elevated above the skin surface as is seen in striate keratoderma of Brunauer-Fuhs-Siemens. [ Table 1] differentiates between these two types of palmoplantar keratodermas. ...
Inherited punctate palmoplantar keratoderma is a rare disease
characterized by multiple, small, asymptomatic, keratotic papules on
the palms and soles.
Punctate keratoderma has rarely been reported
in a linear fashion.
We found only three reports of unilateral linear
type of punctate palmoplantar keratoderma described till now.
We present a unique case of unilateral linear punctate plantar
keratoderma, a presentation never reported before in literature.
... Потоотделение не нарушено. Гистологически выявляют гиперкератоз с паракератозом в центральной части, небольшой акантоз, в дерме -незначительный периваскулярный воспалительный инфильтрат [14,24,25]. ...
Palmar-plantar keratoderma is a heterogeneous group of hereditary dermatosis, which can be independent diseases or combined with various congenital malformations, most of ectodermal origin. Approaches to differential diagnosis and clinical features of each form of this pathology are described. Keratoderma, Unna Toast genodermatosis belongs to the group, which is characterized by hyperkeratosis on the palms and soles without migration to other skin areas.
... Palmoplantar keratodermas (PPKs) are a heterogeneous group of disorders characterized by abnormal hyperkeratosis affecting the palms and soles [1]. PPKs can be classified based on whether they are inherited or acquired. ...
... PPKs can be classified based on whether they are inherited or acquired. Inherited PPKs can be further divided clinically into 3 distinct subgroups: diffuse PPK, focal PPK, and punctate PPK [1]. ...
... PPPK is a rare entity of PPK with an estimated prevalence rate of 1.17/100,000 [1]. PPPK typically presents as bilateral asymptomatic tiny hyperkeratotic punctate papules/ plaques on the palmoplantar surface [1]. ...
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface. Among the PPPK varieties, the linear presentation is much rarer, and so far there have been only 3 case reports. Here, we report the case of a 27-year-old female Thai patient who presented to our outpatient clinic with unilateral asymptomatic linear thickening lesions on her right sole since childhood. There were no similar lesions on other parts of the body. A histopathologic examination revealed epidermal hyperplasia and hyperkeratosis without columns of parakeratosis or cornoid lamella. The other examinations were normal. The clinical and histological contexts were consistent with a diagnosis of unilateral linear PPPK. The patient was treated with topical 10% urea cream and 10% salicylic acid cream twice daily. To the best of our knowledge, this is the first reported case of unilateral linear PPPK in Thailand, and the fourth reported case worldwide.
... Based on the clinical pattern of involvement, PPKs are classified into diffuse PPK (affecting most of the palms and soles), focal PPK (mainly involving pressure areas), and punctate palmoplantar keratoderma (resulting in tiny papules and plaques on the palms and soles) ( Table 1). Several clinical variants of punctate palmoplantar keratoderma (PPPK) have been recognized: Brauer- Buschke-Fischer keratoderma (an autosomal dominant with variable penetrance, characterized clinically by multiple, punctate keratoses over the palmoplantar surfaces), punctate porokeratotic keratoderma, focal acral hyperkeratosis (also known as acrokeratoelastoidosis lichenoides), and unilateral linear punctate keratoderma [1][2][3]. To our knowledge, we report the second case of disseminated punctate palmoplantar keratoderma and review the literature of this rare entity [4] ( Table 2). ...
... Punctate palmoplantar keratodermas are a rare subtype of PPK, with an estimated prevalence rate of about 1.17 per 100,000 [1,2]. PPPK lesions typically appear within the first two decades of life, but can occur in the fourth or fifth decade [5]. ...
... Although there is a strong genetic and familial association, some patients with PPPK have no apparent family history of the condition. Sporadic cases may be idiopathic or related to systemic disease, malignancy, malnutrition, medications, infections, UV irradiation, or immunosuppression [2,[5][6][7]. Occurred in an African American woman (probably with Fitzpatrick type 5 or 6) ...
We report a rare case of a 53-year-old woman presenting with diffuse, late-onset disseminated hyperkeratotic papules. Biopsy showed massive hyperkeratosis overlying a crateriform epidermal depression and hypergranulosis with mild epidermal hyperplasia. There was no parakeratosis, cornoid lamella, or dyskeratosis. Based on the clinical findings and histopathological features, a diagnosis of disseminated punctate keratoderma was made. This is a rare subtype of palmoplantar keratoderma, which has a putative increased risk of malignancy. This case report emphasizes the importance of identifying the clinical and histological presentation of this rare condition; referral of the patient for age-appropriate malignancy screening is appropriate. We also present a concise review of treatment options.
... P. Oztas и соавт. [6]. Установили, что при псориазе наружное лечение мочевиной уменьшает гиперпролиферацию эпидермиса и индуцирует дифференцировку кератиноцитов. ...
... The onset of PPPK is usually observed between 10 and 45 years of age. 1 The inheritance pattern of PPPK is mostly autosomal dominant, but simplex cases have also been described. 2 Linkage analyses of PPPK families have previously identified a locus within 15q22-q24 [3][4][5] , but a genome-wide linkage study performed in two Chinese families demonstrated a novel locus for PPPK phenotype on chromosome 8q24.13-8q24. ...
Background:
Punctate palmoplantar keratoderma type I (PPPK-BFB), also called Buschke-Fischer-Brauer disease (MIM 148600) is a rare autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles. Recently, PPPK-BFB has been shown to be associated with mutations in the AAGAB gene in several families of European, African, Canadian and Asian origins.
Objective:
To characterize the clinical and genetic features of PPPK-BFB in a broad group of Tunisian patients.
Methods:
Epidemiological and clinical data were collected from 18 PPPK-BFB patients belonging to eight Tunisian families. We carried out mutational and structural analysis for families not previously investigated.
Results:
Sequencing of the remaining families identified a total of three different mutations in AAGAB gene: one founder mutation (c.348_349delAG, p.R116Sfs*1) specific to the inbred Tunisian population, one recurrent mutation and (c.370C>T, p.R124*) one novel variant (c.430C>G, p.E144K). This novel mutation, involving a conserved amino acid, is predicted to be probably damaging to the p34 protein function. Assessment of the phenotypic presentation of this group of Tunisian patients was marked by variable severity and varying age at onset with a possible presence of anticipation noted in five out of eight families (62.5%). There is no apparent genotype-phenotype correlation. Despite the high degree of inbreeding, no homozygous individuals for AAGAB mutations were observed. Homozygous carriers in AAGAB gene are likely non-viable.
Conclusion:
This study contributes to further characterize PPPK-BFB in consanguineous families and to extend the mutational spectrum of AAGAB gene in the Tunisian population.
