| 1 |
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
62
|
Liu Y...Zhang X
|
35986704 |
2022 |
| 2 |
Disseminierte papulöse Variante des Morbus Dowling-Degos: Histopathologische Merkmale bei POGLUT1-Mutation.
62
|
Papadopoulou K...Boer-Auer A
|
36383961 |
2022 |
| 3 |
Atrophic papulosis (Köhlmeier-Degos disease) revisited: a cross-sectional study on 105 patients.
62
|
Kaleta KP...Zouboulis CC
|
35610757 |
2022 |
| 4 |
Inflammation and thrombo-occlusive vessel signalling in benign atrophic papulosis (Köhlmeier-Degos disease).
62
|
Zouboulis CC...Makrantonaki E
|
35748122 |
2022 |
| 5 |
Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.
62
|
Papadopoulou K...Boer-Auer A
|
36314591 |
2022 |
| 6 |
Degos disease in a child presenting with acute renal failure.
62
|
Ng PSM...Koh MJA
|
36443642 |
2022 |
| 7 |
Current challenges of genodermatosis in a limited-resource country: An Indonesian perspective.
62
|
Rayinda T...Danarti R
|
36331132 |
2022 |
| 8 |
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
62
|
Savostyanov K...Fisenko A
|
36430820 |
2022 |
| 9 |
Renal involvement in H syndrome, a rare cause of diabetes mellitus: Case report.
62
|
Polat R...Ceylaner S
|
36372920 |
2022 |
| 10 |
Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.
62
|
So JY...Chiou AS
|
36253825 |
2022 |
| 11 |
Lipoid proteinosis: A systematic presentation of an unusual disease.
62
|
Mofarrah R...Rostamian F
|
35176194 |
2022 |
| 12 |
Surgical management and oncological follow-up of cutaneous squamous cell carcinomas arising in epidermolysis bullosa patients.
62
|
Paganelli A...Magnoni C
|
35315931 |
2022 |
| 13 |
Progressive cribriform and zosteriform hyperpigmentation: a histologic mimicker of Dowling-Degos disease?
62
|
Liu C...Tan C
|
36457684 |
2022 |
| 14 |
Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
62
|
Del Rio-Martinez CJ...Vazquez-Herrera NE
|
36263758 |
2022 |
| 15 |
Progression and flaring of focal dermal hypoplasia during an acute illness.
62
|
Drolshagen H...Evans MS
|
36126868 |
2022 |
| 16 |
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
62
|
Hoeger PH...Mercier S
|
36102338 |
2022 |
| 17 |
Pure lumbar foraminal cavernous malformation in a patient with Cowden syndrome-a case report.
62
|
D'Onofrio GF...Barrey CY
|
36285093 |
2022 |
| 18 |
Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma.
62
|
Inci R...Peltonen S
|
36152004 |
2022 |
| 19 |
Current developments in gene therapy for epidermolysis bullosa.
62
|
Kocher T...Koller U
|
35235467 |
2022 |
| 20 |
Interrogation of RDEB Epidermal Allografts after BMT Reveals Coexpression of Collagen VII and Keratin 15 with Proinflammatory Immune Cells and Fibroblasts.
62
|
Riedl JA...Tolar J
|
35304249 |
2022 |
| 21 |
Ankle Swelling in Patients With Type 1 Neurofibromatosis: A Report of Two Cases With Rare Presentation of Common Genodermatosis.
62
|
Thomas IN...Shanmugam NP
|
36237736 |
2022 |
| 22 |
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
62
|
Pan C...Li M
|
36140582 |
2022 |
| 23 |
Sequential treatments of Hailey-Hailey disease with photodynamic therapy, botulinum toxin type A and dapsone: A case report.
62
|
Lobefaro F...Amerio P
|
36124888 |
2022 |
| 24 |
Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine.
62
|
Yilmaz P...Has C
|
35189150 |
2022 |
| 25 |
Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.
62
|
Marin-Garcia PJ...Llobat L
|
36006348 |
2022 |
| 26 |
Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations.
62
|
Nobre AVV...Motta ACF
|
35948332 |
2022 |
| 27 |
Condyloma and coincidental epidermodysplasia verruciformis acanthoma positive for human papillomavirus-14 and -21.
62
|
Bartley B...Torres-Cabala CA
|
36039682 |
2022 |
| 28 |
A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis.
62
|
Liu Z...Yang B
|
35340079 |
2022 |
| 29 |
Nutritional impairment of neonates with epidermolysis bullosa: a retrospective study.
62
|
Filoni A...Laforgia N
|
35389041 |
2022 |
| 30 |
Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.
62
|
van den Akker PC...Pasmooij AMG
|
36140224 |
2022 |
| 31 |
Acquired Dermal Macular Hyperpigmentation Mimicking Dowling Degos Disease: A Case Report.
62
|
Ahmed WA...Al Hawsawi K
|
36148207 |
2022 |
| 32 |
Exploring the pathophysiologic basis of constrictive pericarditis of Kohlmeier Degos disease: A case series and review of the literature.
62
|
Magro C...Shapiro L
|
35588602 |
2022 |
| 33 |
A Particular Bicentric Structure in Dermoscopic Demonstration of Degos Disease.
62
|
Li A...Sun Q
|
36159151 |
2022 |
| 34 |
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.
62
|
Chouk H...H'mida D
|
35883075 |
2022 |
| 35 |
Unusual facial lesions in H syndrome.
62
|
Rekik M...Turki H
|
35865784 |
2022 |
| 36 |
Efficacy and Safety of Oral Green Tea Preparations in Skin Ailments: A Systematic Review of Clinical Studies.
62
|
Di Sotto A...Di Giacomo S
|
35956325 |
2022 |
| 37 |
Dermoscopy of Erythrokeratoderma Variabilis.
62
|
Neema S...Kinra P
|
36262565 |
2022 |
| 38 |
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
62
|
Marmolejo Castaneda DH...Balmana Gelpi J
|
35781852 |
2022 |
| 39 |
Eosinophilic homogeneous intracytoplasmic inclusion bodies: Unique viral cytopathic changes associated with epidermodysplasia verruciformis and human papillomavirus type 49.
62
|
Bartley BR...Cho WC
|
35262953 |
2022 |
| 40 |
The potential role for phage therapy for genetic modification of cutaneous diseases.
62
|
Meister H...Silverberg N
|
35181409 |
2022 |
| 41 |
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
62
|
Loh AYT...Reversade B
|
35212137 |
2022 |
| 42 |
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
62
|
Mohaghegh F...Uitto J
|
35246884 |
2022 |
| 43 |
Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.
62
|
Miyazaki S...Saeki H
|
35274376 |
2022 |
| 44 |
Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire.
62
|
Villar Hernandez AR...Posada de la Paz M
|
35742308 |
2022 |
| 45 |
Cardiac features in a patient with erythrokeratodermia cardiomyopathy syndrome.
62
|
Ichikawa Y...Ueda H
|
34629121 |
2022 |
| 46 |
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.
62
|
Kawai M...Kurahashi H
|
35768795 |
2022 |
| 47 |
Diffused Degos disease treated with rivaroxaban.
62
|
Gu X...Chen M
|
35707869 |
2022 |
| 48 |
Follicular Dowling-Degos Disease Camouflaged as Comedones: A Case Report and Literature Review.
62
|
S A...Rupa Ramani J
|
35865417 |
2022 |
| 49 |
The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review.
62
|
Chateau AV...Aldous C
|
35524482 |
2022 |
| 50 |
Obstinate leg ulceration secondary to prolidase deficiency, treated with 5% topical proline.
62
|
Cathcart C...Thompson B
|
35106785 |
2022 |
Rare skin diseases