Disorders of Keratinization

Judge, M. R.; McLean, W. H. Irwin; Munro, Colin S.

doi:10.1002/9780470750520.ch34

Cited by 75 publications

(51 citation statements)

References 1,077 publications

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“…The sites of predilection are the extensor surfaces of the upper arms (92%), thighs (59%) and buttocks (30%). [2] The classically described histopathology is distention of the follicular orifice by a keratinous plug that may contain one or more twisted hairs. [3]…”

Section: Introductionmentioning

confidence: 99%

Keratosis Pilaris Revisited: Is It More Than Just a Follicular Keratosis?

Thomas

Khopkar

2012

Int J Trichol

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Background:Keratosis pilaris (KP) is characterized by keratinous plugs in the follicular orifices and varying degrees of perifollicular erythema. The most accepted theory of its pathogenesis proposes defective keratinization of the follicular epithelium resulting in a keratotic infundibular plug. We decided to test this hypothesis by doing dermoscopy of patients diagnosed clinically as keratosis pilaris.Materials and Methods:Patients with a clinical diagnosis of KP seen between September 2011 and December 2011 were included in the study. A clinical history was obtained and examination and dermoscopic evaluation were performed on the lesions of KP.Results:The age of the patients ranged from 6-38 years. Sixteen patients had history of atopy. Nine had concomitant ichthyosis vulgaris. All the 25 patients were found to have coiled hair shafts within the affected follicular infundibula. The hair shafts were extracted with the help of a sterile needle and were found to retain their coiled nature. Perifollicular erythema was seen in 11 patients; perifollicular scaling in 9.Conclusion:Based on our observations and previously documented histological data of KP, we infer that KP may not be a disorder of keratinization, but caused by the circular hair shaft which ruptures the follicular epithelium leading to inflammation and abnormal follicular keratinization.

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Section: Introductionmentioning

confidence: 99%

Keratosis Pilaris Revisited: Is It More Than Just a Follicular Keratosis?

Thomas

Khopkar

2012

Int J Trichol

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“…PPK may also be caused by environmental reasons and lifestyle [22]. Although we did not matched the two groups for the occupation, we controlled the effects of age, gender and living place (urban / rural).…”

Section: Discussionmentioning

confidence: 99%

Palmoplantar keratoderma is associated with esophagus squamous cell cancer in Van region of Turkey: a case control study

et al. 2005

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BackgroundEsophagus squamous cell cancer (ESCC) is the most common cancer in women with 20.2% and second in men with 10.7% relative frequency among all cancer cases diagnosed in Van Region in the east of Turkey. Ninety percent of all esophageal cancer cases are ESCC and 20–30% of them have family history of esophageal cancer. The most clear defined hereditary predisposition associated with ESCC is palmoplantar keratoderma (PPK). To examine the relationship between ESCC and PPK, we have carried out this case control study.MethodsThe case group consisted of 48 subjects who had new diagnosis of ESCC and did not receive any chemo or radiotherapy. The control group consisted of 96 healthy individuals who were visitors of their relatives in the hospital. Two control persons who matched for age, gender, living place (urban /rural) and region were selected for each case. All subjects were evaluated for PPK by dermatologist. Evaluation was graded as none, mild, evident and severe. None and mild subjects were classified as negative for PPK; and others as positive. Relationship between ESCC and PPK was evaluated with odds ratios and confidence intervals for cases with or without family history of ESCC.ResultsThe PPK frequencies were 92.3% in ESCC cases with family history, 62.5% in ESCC cases without family history, 70.8% in all ESCC cases, and 28.1% in the control group. Odds ratios for cases with or without family history of esophageal cancer, and for the whole case group were found as 30.7 (95%CI = 3.8–247.4), 4.3 (95%CI = 1.9–9.8) and 6.2 (95%CI = 2.9–13.3) respectively.ConclusionPresence of PPK lesions represents genetic susceptibility for ESCC. This susceptibility for ESCC is the highest among those who have PPK lesions and a positive family history of esophageal cancer. Furthermore, a PPK sufferer has an increased risk of developing ESCC even if there is no family history of esophageal cancer.

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“…Patients affected by psoriasis vulgaris, erythrodermic psoriasis, generalised pustular psoriasis, acral pustular psoriasis (APP, including both Acrodermatitis Continua of Hallopeau and Palmar Plantar Pustulosis) were ascertained as described elsewhere Hussain et al, 2014). Pityriasis rubra pilaris was diagnosed on the basis of established criteria (Judge et al, 2004). All patients with pustular psoriasis had been previously screened for IL36RN and AP1S3 mutations, so as to exclude any subjects carrying disease alleles at known loci (Onoufriadis et al, 2011;Setta-Kaffetzi et al, 2014).…”

Section: Subjectsmentioning

confidence: 99%

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris

Berki

Liu

Choon

et al. 2015

Journal of Investigative Dermatology

100

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Caspase recruitment family member 14 (CARD14, also known as CARMA2), is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Gain-of-function CARD14 mutations have been documented in familial forms of psoriasis vulgaris (PV) and pityriasis rubra pilaris (PRP). More recent investigations have also implicated CARD14 in the pathogenesis of pustular psoriasis. Follow-up studies, however, have been limited, so that it is not clear to what extent CARD14 alleles account for the above conditions. Here, we sought to address this question by carrying out a systematic CARD14 analysis in an extended patient cohort (n=416). We observed no disease alleles in subjects with familial PV (n=159), erythrodermic psoriasis (n=23), acral pustular psoriasis (n=100), or sporadic PRP (n=29). Conversely, our analysis of 105 individuals with generalized pustular psoriasis (GPP) identified a low-frequency variant (p.Asp176His) that causes constitutive CARD14 oligomerization and shows a significant association with GPP in Asian populations (P=8.4×10(-5); odds ratio=6.4). These data indicate that the analysis of CARD14 mutations could help stratify pustular psoriasis cohorts but would be mostly uninformative in the context of psoriasis and sporadic PRP.

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Disorders of Keratinization

Cited by 75 publications

References 1,077 publications

Keratosis Pilaris Revisited: Is It More Than Just a Follicular Keratosis?

Keratosis Pilaris Revisited: Is It More Than Just a Follicular Keratosis?

Palmoplantar keratoderma is associated with esophagus squamous cell cancer in Van region of Turkey: a case control study

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris

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