First documented case of ichthyosis prematurity syndrome in Iraq: A case report with literature review.

Ichthyosis Prematurity Syndrome (IPS) is a rare autosomal recessive disorder characterized by premature birth, respiratory distress, and distinctive skin abnormalities. Infants with IPS typically present between 30 and 34 weeks of gestation with a thick, caseous, desquamating epidermis resembling vernix caseosa. We report a case of a female neonate born at 30 weeks, weighing 1400 grams, with severe respiratory distress and characteristic skin abnormalities. Immediate intervention, including mechanical ventilation and surfactant therapy, was essential. Histopathological examination revealed hyperkeratosis, parakeratosis, and a thickened stratum corneum, with genetic testing confirming FATP4 gene mutations. Comprehensive care by a multidisciplinary team, including CPAP, emollients, and enteral feeding, led to significant improvement, and the neonate was discharged after 4 weeks. This is the first reported case of IPS in Iraq. This case highlights the importance of early recognition, genetic testing, and a coordinated care approach for managing IPS, emphasizing the need for awareness of its characteristic features to improve patient outcomes.

Erythema Scarlatiniforme Desquamativum Recidivans: A Rare and Puzzling Condition.

Recurrent erythema scarlatiniforme desquamativum recidivans (ESDR), also known as Féréol-Besnier disease, is a rare condition marked by a recurrent erythematous rash that is followed by extensive desquamation, primarily affecting the palms and soles. It is often preceded by prodromal symptoms such as malaise, headache, myalgias, digestive issues, and fever. The exact pathogenesis remains unknown, and diagnosis can be challenging due to its resemblance to various infectious, auto-inflammatory, or allergic conditions, leading to diagnostic variability. Given that most reported cases are over 50 years old, our objective is to highlight this rare and enigmatic pathology through a typical case of the generalized variant of ESDR in a 13-year-old girl. We aim to increase physician awareness of this condition and provide reassurance to both parents and their child regarding its benign nature.

Comparison of liposomal gel with and without chamomile to prevent radiation dermatitis in breast cancer patients: a randomized controlled trial.

PURPOSE: To compare a liposomal gel with and without chamomile extract for the prevention of radiation dermatitis in breast cancer patients undergoing radiotherapy. METHODS: This study was a double-blind randomized clinical trial. A total of 100 participants undergoing radiotherapy for breast cancer were recruited. The primary outcome was the occurrence of dry desquamation. Cumulative dose of ionizing radiation at the first occurrence of dry desquamation, occurrence of erythema, moist desquamation, global radiation dermatitis, and any signs and symptoms self-reported by participants were secondary outcomes. RESULTS: Dry desquamation occurred in 6.0% of the participants using chamomile liposomal gel and 12.2% of those using liposomal gel (p = 0.32). The mean cumulative dose of ionizing radiation for the first occurrence of dry desquamation was 45.1 Gy in the chamomile liposomal gel group and 43.7 Gy in the liposomal gel group. There were no differences between the two gels in the occurrence of erythema, dry desquamation, moist desquamation, and radiation dermatitis compared to liposomal gel. There was a lower proportion of reported symptoms in the chamomile liposomal gel group compared to liposomal gel group in the first 3 weeks of radiation, especially for itching (p = 0.05). CONCLUSION: No statistically significant differences between the two gels were found in radiation dermatitis occurrence and dose at first occurrence. Comparing to the literature, it seems that both interventions may be effective, which might explain the lack of statistical difference between the groups.

Pseudoephedrine-induced Fixed Drug Eruption in a Scuba Diver With Recurrent Palmoplantar Exfoliation.

Objectives: This report presents a case of pseudoephedrine-induced nonpigmented bullous fixed drug eruption (NBFDE) manifesting as recurrent palmoplantar exfoliation in a scuba diver. It emphasizes the importance of considering drug allergies in the differential diagnosis when divers present with peeling hands and soles. Methods: A 38-year-old female scuba diver experiencing recurrent palmoplantar exfoliation underwent a clinical evaluation, patch testing, an interferon-gamma enzyme-linked immunospot (ELISpot) assay, and graded drug challenges with pseudoephedrine and phenylephrine. Results: Patch testing yielded negative results; however, the ELISpot assay indicated a strong immune response to pseudoephedrine. A graded challenge involving pseudoephedrine successfully reproduced the symptoms, confirming a diagnosis of pseudoephedrine-induced NBFDE. Subsequently, a challenge with phenylephrine elicited a milder reaction, suggesting it as a potential alternative medication for the patient. Conclusions: This case highlights NBFDE as a potential cause of skin peeling in scuba divers who are allergic to pseudoephedrine. It emphasizes the importance of considering drug allergies when diagnosing palmoplantar exfoliation in divers and underscores the need for a thorough evaluation of medication use in this group. Alternative medications and management strategies should be considered for divers with a pseudoephedrine allergy to prevent ear barotrauma while minimizing the risk of adverse skin reactions.

The incidence of periungual desquamation and thrombocytosis in Kawasaki disease and the importance of systematic observation in the subacute phase.

Background: Periungual desquamation and thrombocytosis are characteristic of the subacute phase of Kawasaki disease (KD). However, accurate observations of periungual desquamation and thrombocytosis are lacking. Methods: This retrospective study included patients with acute-phase KD who received treatment at seven affiliated university hospitals in Korea between 2015 and 2017. Data were extracted from an anonymized registry established by the Korean Society of Kawasaki Disease. We investigated whether the findings of patients observed according to a set protocol until the subacute stage (group I) were different from those of patients observed without the use of a protocol (group II). Results: A total of 879 patients with KD were included in the analysis. Periungual desquamation was observed in 85% and 12.7% of patients in groups I and II, respectively. Thrombocytosis was observed in 76.7% and 44.7% of patients in groups I and II, respectively. Furthermore, compared to the initial test, the platelet counts of patients increased 100% and 67.9% in group I and II, respectively. When incomplete KD was defined only by the main symptoms during the acute stage and the diagnostic criterion of periungual desquamation during the subacute stage was excluded, the significant difference in the incidence of incomplete KD between groups I and II was no longer apparent. Conclusion: Performing regular and detailed observations has resulted in a higher incidence of periungual desquamation and thrombocytosis during the subacute phase of KD than those reported in recent studies. This indicates that until now, we have been neglecting the observation of symptoms and signs during the subacute phase. Regular monitoring during this period can also aid in differentiating suspected cases of KD and facilitate appropriate follow-up of complications.

Radiation-induced dermatitis among breast cancer patients undergoing adjuvant radiotherapy in Ghana.

The aim of the study was to investigate radiation-induced epidermal desquamation among breast cancer patients undergoing radiotherapy with 6MV linac and Co-60 teletherapy units. METHOD: Quantitative data was collected using self-administered closed ended questionnaires addressing the desquamation in relation to some patient-and treatment-related factors. The Radiation Therapy Oncology Group (RTOG) criteria for acute skin toxicity was used to grade the toxicity. Chi square and logistic regression analyses were respectively used to test statistical significance and evaluate the effects of the various factors on radiation induced epidermal desquamation RESULTS: Majority of the participants had high BMIs (overweight: 39.5 %; obese: 50 %). Patients with BMI ≥ 25 kg/m2 presented with wet desquamation (RTOG grade 2). A chi-square analysis showed a significant difference (p = 0.02) between BMI and severity of desquamation. There was no significant difference between type of treatment machine and cumulative incidence dose of desquamation (p= 0.251). The logistic regression analysis showed that patients who had undergone mastectomy (OR = 0.562) were less likely to develop wet desquamation (RTOG grade 2) on the Co-60 machine within the 20-30 Gy threshold (OR=0.981) compared to those on the linear accelerator. Patients with lower BMI (OR = 0.412,[ < 25 vs ≥30]; OR = 0.286, [25-29.9 vs ≥30]) were also less likely to develop wet desquamation compared to those with higher BMI. CONCLUSION: Radiation-induced epidermal desquamation is a common side effect of breast cancer patients undergoing radiotherapy. BMI has an effect on the severity of desquamation experienced during breast irradiation.

Sphingolipid-Enriched Porcine Placental Extract Promotes the Expression of Structural Genes and Desquamation Enzyme Genes in Cultured Human Keratinocytes.

Porcine placental extract (PPE) is commonly used in various health foods and cosmetics. PPE use in cosmetics predominantly consist of the water-soluble fraction derived from the entire placenta. In this report, we examined the effect of the hydrophobic constituents of the PPE, specifically the sphingolipid-enriched fraction designated as the sphingolipid-enriched porcine placental extract (SLPPE), on the expression of genes associated with skin function in cultured normal human epidermal keratinocytes. Using quantitative RT-PCR (qRT-PCR) analysis, we found that SLPPE concentrations ranging from 25 to 100 µg/mL upregulated the gene expression of key components associated with the cornified envelope structure (filaggrin (FLG), involucrin (IVL) and loricrin (LOR)), cornification enzymes (transglutaminase 1 (TGM1) and TGM5) and the desquamation enzymes (kallikrein 5 (KLK5) and KLK7). Additionally, KLK5p and FLG protein (FLGp) were detected in the culture supernatants of keratinocytes treated with SLPPE at these concentrations. These findings suggest that SLPPE is possible to promote the cornification and desquamation in epidermal keratinocytes, and it may offer potential benefits in cosmetics.

Glycolic acid-induced disruption of epidermal homeostasis in a skin equivalent model: Insights into temporal dynamics and mechanisms.

Glycolic acid (GA) is extensively used in cosmetic formulations and skin peeling treatments but its adverse effects, notably severe disruption of epidermal structure, limit its clinical utility. However, the detailed impact of GA on epidermal homeostasis, including changes in structure and protein expression over time, is not fully understood. This study employed a reconstructed human epidermis (RHE) model to assess the effects of varying GA concentrations on epidermal proliferation, differentiation, and desquamation at different time points. Through histology, immunofluorescence, and immunohistochemistry, we observed that 35% GA concentration adversely caused abnormal epidermal homeostasis by affecting epidermal proliferation, differentiation and desquamation. Our findings reveal time-specific responses of key proteins to GA: Filaggrin, Involucrin, Loricrin, and Ki67 showed very early responses; KLK10 an early response; and AQP3 and K10 late responses. This research provides a detailed characterization of GA's effects in an RHE model, mimicking clinical superficial peeling and identifying optimal times for detecting GA-induced changes. Our results offer insights for designing interventions to mitigate GA's adverse effects on skin, enhancing the safety and efficacy of GA peeling treatments.

A novel cause of erythromelalgia due to pseudoephedrine.

Objective: Erythromelalgia is a rare, highly debilitating disorder characterised by severe episodes of discomfort, erythema, and desquamation of the extremities. Its causes include genetic factors, medications, and several underlying medical conditions. This paper describes a novel cause of erythromelalgia through a case report and literature review. Case description: A 47-year-old Caucasian man presented with a two-year history of intermittent pain, redness and desquamation of the hands. He experienced several such episodes, each lasting 3-4 weeks. A skin biopsy confirmed the diagnosis of erythromelalgia. After several recurrences, he admitted to the intermittent use of pseudoephedrine as a nasal decongestant, which coincided with the episodes of erythromelalgia. Complete resolution of symptoms was reported on cessation of this medication. Conclusion: Pseudoephedrine has been reported to cause a wide range of cutaneous reactions but has not been known to precipitate erythromelalgia. Recognition of this rare side effect may offer early diagnosis and reduced morbidity.

Unusual Presentation of Staphylococcal Scalded Skin Syndrome in an Elderly Patient With Acute Kidney Injury: A Case Report.

Staphylococcal Scalded Skin Syndrome (SSSS) is characterized by denudation of the skin caused by Staphylococcus species. SSSS is common in infants, children, and rarely immunosuppressed adults or those with severe renal disease. We report a case of a 70-year-old female patient with an acute kidney injury who developed peeling of the skin over the axilla and back, which gradually spread to involve the upper and lower limbs, chest, and abdomen. A skin biopsy was performed, and a histopathological examination revealed a sub-corneal split consistent with SSSS. The patient was diagnosed with adult SSSS and was started on treatment with intravenous antibiotics, following which the skin lesions resolved.

Quantifying the clinical and economic burden of desquamating dermatological conditions: Implications for a supraregional burns centre.

INTRODUCTION: This study aimed to identify the spectrum of desquamating skin diseases referred for tertiary burns care and quantify the care requirements and expenses associated with caring for these patients within the burns service. METHODS: Patient records were identified with nonburn-induced skin loss between 2016 and 2022. Data was extracted from inpatient records, operative notes, and dressing clinic records. A cost analysis was conducted using figures from the National Schedule of National Health Service Costs and our own unit-specific costs. RESULTS: Twenty patients were identified, with a median age of 46.5 and a median total body surface area of 30%. The mean length of stay was 21.2 days, with 8/20 patients requiring intensive care. Overall mortality was 30%, rising to 50% if patients required intensive treatment unit (ITU) admission. Patients had a mean of 1.5 procedures under general anaesthesia and a mean operative time of 169 min per patient. Postoperatively, a mean of 8.3 dressing changes was required per patient (range 1-21). Of 75% of patients referred as suspected toxic epidermal necrolysis syndrome (TENS), only 32% of patients histologically had TENS (32%), with linear IgA disease, pemphigus vulgaris and bullous lupus comprising the other diagnoses. Cost analysis predicted a total cost to the unit of £1,422,106. CONCLUSION: Desquamating dermatological diseases are life-threatening conditions with exhaustive care requirements. Our experiences highlight the importance of awareness of the range of desquamating skin conditions beyond TENS to enable optimum management and the need to ensure adequate financial provisions to accommodate the care requirements mandated by these patients.

Predestinative role acidic cerebrospinal fluid on the destiny of central channel in spinal cord following subarachnoid hemorrhage: an experimental study.

OBJECTIVE: Acidosis is the most dangerous complication in subarachnoid hemorrhage (SAH). This study aimed to investigate the effect of acidic cerebrospinal fluid on central canal structures after SAH. MATERIALS AND METHODS: Twenty-eight hybrid rabbits were studied. Blood and cerebrospinal fluid pH values were recorded before/during/after the experimental procedures. The structures related to the central canals at the level of C5 of the cervical spinal cord were then examined histopathologically. The relationship between pH values of ependymal cells and degenerated epithelial cell densities was statistically analyzed. RESULTS: Mean blood pH values and degenerated ependymal cell density (n/mm2) were as follows: 7.351 ± 0.033/23 ± 7 in control, 7.322 ± 0.059/78 ± 13 in SHAM, and 7.261 ± 0.048/254 ± 62 in study animals. Gross examinations revealed swelling, edema, pia-arachnoid adhesions, ventral canal dilatation, arachnoiditis, central canal hemorrhage, occlusions, and dilatation in the spinal cord. CONCLUSION: Cerebrospinal fluid acidosis-induced central channel pathologies should be considered an important complication of SAH following SAH.

OBJETIVO: La acidosis es la complicación más peligrosa en la hemorragia subaracnoidea (HSA). El objetivo de este estudio fue investigar el efecto del líquido cefalorraquídeo ácido en las estructuras del canal central tras la HSA. MATERIALES Y MÉTODOS: Se estudiaron 28 conejos híbridos. Se registraron los valores de pH de la sangre y del líquido cefalorraquídeo antes, durante y después de los procedimientos experimentales. A continuación se examinaron histopatológicamente las estructuras relacionadas con los canales centrales a nivel de C5 de la médula espinal cervical. Se analizó estadísticamente la relación entre los valores de pH de las células ependimarias y las densidades de células epiteliales degeneradas. RESULTADOS: Los valores medios de pH en sangre y la densidad de células ependimarias degeneradas (n/mm2) fueron los siguientes: 7.351 ± 0.033/23 ± 7 en el control, 7.322 ± 0.059/78 ± 13 en el SHAM, 7.261 ± 0.048/254 ± 62 en los animales del estudio. Los exámenes macroscópicos revelaron hinchazón, edema, adherencias pia-aracnoideas, dilatación del canal ventral, aracnoiditis, hemorragia del canal central, oclusiones y dilatación en la médula espinal. CONCLUSIONES: Las patologías del canal central inducidas por la acidosis del líquido cefalorraquídeo deben considerarse como una complicación importante de la HSA tras una hemorragia subaracnoidea.

Manifestaciones dermatológicas en una lactante con síndrome de kwashiorkor Claves para el diagnóstico y tratamiento oportuno / Dermatological Manifestations in an Infant with Kwashiorkor Syndrome: Keys for Diagnosis and Timely Treatment

Resumen El síndrome de kwashiorkor se caracteriza por malnutrición proteica y edema generalizado; algunos de los factores de riesgo que se asocian a su aparición son: vivir en pobreza, el destete reciente, las infecciones y las dietas basadas en maíz y arroz. Este síndrome puede generar manifestaciones cutáneas como piel delgada y seca, hiperpigmentación, áreas confluentes de descamación, cabello seco, hipopigmentado y desprendible, así como una dermatitis erosiva con predominio en pliegues cutáneos. El diagnóstico se basa principalmente en una evaluación nutricional integral, exploración física y estudios de laboratorio, y el éxito del tratamiento se basa en la rehabilitación nutricional temprana. Caso clínico: lactante del sexo femenino de 8 meses de edad, que acudió al Instituto Nacional de Pediatría (INP), por presentar una dermatosis generalizada de tipo descamativa de 1 mes de evolución, que fue tratada con ketoconazol tópico. Al interrogatorio la madre refiere alimentación exclusiva con atole de maíz por un diagnóstico de "alergia a la leche" y falta de recursos económicos para comprar la fórmula hidrolizada. La paciente presentaba una dermatosis diseminada que afectaba todos los segmentos corporales, caracterizada por placas hiperpigmentadas, bien definidas, de forma irregular, con descamación en láminas gruesas en región perioral y extremidades, así como áreas erosionadas, pálidas y edema generalizado en extremidades. Se realizaron exámenes de laboratorio que mostraron que la paciente tenía anemia (Hb 11.2 g/dL) e hipoalbuminemia (3.3 g/dL) que, en conjunto con las manifestaciones clínicas, integraron el diagnóstico de síndrome de Kwashiorkor. Se informaron los hallazgos clínicos y de laboratorio al servicio de Gastroenterología y Nutrición, quienes realizaron una valoración nutricional integral y decidieron iniciar tratamiento nutricional; por parte del servicio de Dermatología, se indicó el uso de emolientes y cuidados generales de la piel. Veinte días después la dermatosis y el edema habían remitido.

Abstract Kwashiorkor syndrome is characterized by protein malnutrition and edema, risk factors are recent weaning, infections, and diets based on corn and rice. This malnutrition can lead to skin manifestations such as thin, dry skin, hyperpigmentation, confluent areas of scaling, dry, hypopigmented, and detachable hair, as well as erosive dermatitis, predominantly in skin folds. The diagnosis is based on a nutritional evaluation exam, physical examination and laboratory finding, the treatment is based on early nutritional rehabilitation. Clinical case: 8-month-old female infant who attended the Instituto Nacional de Pediatría, presenting a scaling dermatosis of 1 month's evolution that was treated with topical ketoconazole. The mother reported exclusive feeding with corn gruel due to the diagnosis of "lactose allergy" and commented not enough resources to buy hydrolyzed formula. The patient presented a disseminated dermatosis to all body segments, characterized by well-defined, irregularly shaped, hyperpigmented plaques with scaling in thick sheets in the perioral region and extremities, as well as areas of eroded skin and paleness and edema of extremities. Laboratory tests were taken, where anemia (Hb 11.2 g/dl) and hipoalbuminemia (3.3 g/dl) were documented, the diagnosis of kwashiorkor syndrome was integrated. The clinical and laboratory findings were reported to the Gastroenterology and Nutrition service, who performed a nutritional assessment, and began nutritional treatment, emollients and general skin care were documented; twenty days later, the dermatosis and edema had subsided.

A dramatic case of oral epitheliolysis.

Oral epitheliolysis or mucosal shedding is an infrequently described phenomenon characterized by epithelial desquamation, revealing mucosa of normal color and texture underneath. The condition has a predilection for middle-aged females and primarily affects nonkeratinized oral tissues. Although some cases are idiopathic, certain oral hygiene products have been implicated as the culprit, and resolution of the condition documented with their discontinuation. Severity of desquamation and symptoms vary with frequency and duration of contact with the irritant and its concentration. A case is presented of a dramatic case of shedding oral mucosa in an elderly female, which appeared to be caused by habitual chewing of an aspirin-containing over-the-counter analgesic.

Human amniotic membrane graft for refractory macular hole: A single-arm meta-analysis and systematic review.

PURPOSE: The treatment of refractory macular holes is controversial, with human amniotic membrane grafts emerging recently as an attractive option. We performed a meta-analysis and systematic review in this paper to assess the results of human amniotic membrane (hAM) in the treatment of refractory macular hole (MH). METHODS: We searched the Cochrane Database of Systematic Reviews, Web of Science, PubMed, Embase, China National Knowledge Infrastructure databases, VIP database, Wanfang Data Knowledge Service Platform, Sinomed, Chinese Clinical Trial Registry, and Clinical Trials.gov. Studies reporting hAM for the treatment of refractory MH were included. The outcomes are MH closure rate, visual acuity (VA) improvement rate, and graft dislocation/contracture rate. RESULTS: A total of 8 studies on 103 eyes were included, all of which had undergone failed vitrectomy and internal limiting membrane (ILM) peeling. In all studies, the VA improvement rate was 66% (95%CI: 45 to 84%), the MH closure rate was 94% (95%CI: 84 to 100%) and the hAM graft dislocation/contracture rate was 6% (95%CI: 0 to 15%). In the studies using cryopreserved hAM grafts, the MH closure rate was 99% (95%CI: 94 to 100%) and the hAM graft dislocation/contracture rate was 3% (0%, 10%). The VA improvement rates were 94% (95%CI: 79 to 100%) in the retinal detachment subgroup, 37% (95%CI: 20 to 56%) in the pathologic myopia subgroup, and 62% (95%CI: 14 to 100%) in the idiopathic MH subgroup. CONCLUSION: Human amniotic membrane in the treatment of refractory MH results in visual improvement. It has a high macular hole closure rate and low dislocation/contracture rate. Cryopreserved hAM grafts might have better outcomes than dehydrated grafts.

Five cases of skin desquamation due to bevacizumab combined with docetaxel-carboplatin in ovarian cancer.

The standard of care for ovarian cancer chemotherapy is paclitaxel-carboplatin. In Stage III and Stage IV patients, the addition of bevacizumab has been reported to be effective, and bevacizumab combined with paclitaxel-carboplatin and bevacizumab combined with docetaxel-carboplatin are used. Patients who received bevacizumab combined with docetaxel-carboplatin experienced a high incidence of skin hardening followed by peeling. In patients treated with bevacizumab combined with docetaxel-carboplatin, we experienced a high incidence of post-sclerotic peeling of the skin, a symptom that is rarely seen with paclitaxel-carboplatin (TC), docetaxel-carboplatin (DC), or bevacizumab combined with paclitaxel-carboplatin, and has been reported in a few cases. Therefore, we investigated the actual situation of skin desquamation caused by bevacizumab combined with docetaxel-carboplatin. Thirty-one patients were included in the study, and their age (mean ± SD) was 62.9 ± 9.0. The breakdown of treatment was as follows: TC in nine patients, bevacizumab combined with paclitaxel-carboplatin in ten patients, DC in six patients, and bevacizumab combined with docetaxel-carboplatin in six patients. No number of patients with TC or bevacizumab combined with paclitaxel-carboplatin showed skin desquamation. One for DC, and five for bevacizumab combined with docetaxel-carboplatin. The five patients treated with bevacizumab combined with docetaxel-carboplatin improved with topical steroids and moisturizers, but symptoms repeatedly appeared after each course. Skin desquamation was more frequent in bevacizumab combined with docetaxel-carboplatin.

Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.

Cystatin M/E (encoded by the CST6 gene) is a cysteine protease inhibitor, that exerts regulatory and protective effects against uncontrolled proteolysis mainly by directly regulating cathepsin V, cathepsin L, and legumain activities. Previous studies have suggested that CST6 may exert a regulatory role in epidermal differentiation and hair follicle formation by inhibiting the activity of respective cognate target proteases. However, until recently, studies have revealed that loss- or gain-of-function of the CST6 gene causes dry skin with hypotrichosis in humans. Here, we reported two siblings of Chinese origin with dry skin, desquamation and abnormal keratosis without hypotrichosis. By applying whole-exome sequencing, we identified homozygous loss-of-function mutation c.251G > A (p.Gly84Asp) in the CST6 gene as the underlying genetic cause. Further fluorimetric enzyme assays demonstrated the mutant cystatin M/E protein lost its inhibitory function on the protease activity of cathepsins. Moreover, the corresponding mutation in mice resulted in excessive cornification, desquamation, impaired skin barrier function, and abnormal proliferation and differentiation of keratinocytes. In conclusion, the homozygous missense mutation c.251G > A in CST6 gene resulted in dry skin, desquamation, as well as abnormal keratosis of the skin, promoting our understanding of the role of protease-antiprotease balance in human skin disorders.

Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions.

The epidermis serves many vital roles, including protecting the body from external influences and healing eventual injuries. It is maintained by an incredibly complex and perfectly coordinated keratinization process. In this process, desquamation is essential for the differentiation of epidermal basal progenitor cells into enucleated corneocytes, which subsequently desquamate through programmed death. Numerous factors control keratinocyte differentiation: epidermal growth factor, transforming growth factor-α, keratinocyte growth factor, interleukins IL-1-ß and IL-6, elevated vitamin A levels, and changes in Ca2+ concentration. The backbone of the keratinocyte transformation process from mitotically active basal cells into fully differentiated, enucleated corneocytes is the expression of specific proteins and the creation of a Ca2+ and pH gradient at precise locations within the epidermis. Skin keratinization disorders (histologically characterized predominantly by dyskeratosis, parakeratosis, and hyperkeratosis) may be categorized into three groups: defects in the α-helical rod pattern, defects outside the α-helical rod domain, and disorders of keratin-associated proteins. Understanding the process of keratinization is essential for the pathogenesis of many dermatological diseases because improper desquamation and epidermopoiesis/keratinization (due to genetic mutations of factors or due to immune pathological processes) can lead to various conditions (ichthyoses, palmoplantar keratodermas, psoriasis, pityriasis rubra pilaris, epidermolytic hyperkeratosis, and others).