| 1 |
Renal involvement in H syndrome, a rare cause of diabetes mellitus: Case report.
62
|
Polat R...Ceylaner S
|
36372920 |
2022 |
| 2 |
Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
62
|
Del Rio-Martinez CJ...Vazquez-Herrera NE
|
36263758 |
2022 |
| 3 |
Surgical management and oncological follow-up of cutaneous squamous cell carcinomas arising in epidermolysis bullosa patients.
62
|
Paganelli A...Magnoni C
|
35315931 |
2022 |
| 4 |
Progression and flaring of focal dermal hypoplasia during an acute illness.
62
|
Drolshagen H...Evans MS
|
36126868 |
2022 |
| 5 |
Condyloma and coincidental epidermodysplasia verruciformis acanthoma positive for human papillomavirus-14 and -21.
62
|
Bartley B...Torres-Cabala CA
|
36039682 |
2022 |
| 6 |
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 |
| 7 |
Unusual facial lesions in H syndrome.
62
|
Rekik M...Turki H
|
35865784 |
2022 |
| 8 |
Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
62
|
Huang TL...Chou CC
|
35623459 |
2022 |
| 9 |
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 |
| 10 |
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
62
|
Loh AYT...Reversade B
|
35212137 |
2022 |
| 11 |
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.
62
|
Zhang X...Shi Y
|
34717022 |
2022 |
| 12 |
Future applications of 3D bioprinting: A promising technology for treating recessive dystrophic epidermolysis bullosa.
62
|
Popp CM...Tolar J
|
34699623 |
2022 |
| 13 |
Multiple sebaceous tumors in a 58-year-old man with colorectal cancer.
62
|
Ben Rejeb M...Denguezli M
|
35280107 |
2022 |
| 14 |
Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
62
|
Brix ATH...Bygum A
|
35088870 |
2022 |
| 15 |
Incontinentia pigmenti / Bloch-Sulzberger syndrome: a case report.
62
|
Nirmalasari DA...Adriani A
|
35339131 |
2022 |
| 16 |
Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans-Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer.
62
|
Woess K...Guttmann-Gruber C
|
35008999 |
2022 |
| 17 |
Retinal Neovascularization in Two Patients with Incontinentia Pigmenti.
62
|
Dwiyana RF...Feriza V
|
35521560 |
2022 |
| 18 |
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.
62
|
Darbord D...Bourrat E
|
34543471 |
2022 |
| 19 |
Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.
62
|
Taieb A...Ach K
|
35942827 |
2022 |
| 20 |
Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation.
62
|
Shah M...Adhikari RC
|
35663771 |
2021 |
| 21 |
Classic Dowling Degos disease: a rare genodermatosis.
62
|
Piccolo V...Argenziano G
|
31195785 |
2021 |
| 22 |
Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.
62
|
Pan CY...Chou CC
|
34509171 |
2021 |
| 23 |
Ultrasonographic features of cutaneous myxomas in a patient with Carney complex.
62
|
Quintana-Codina M...Salleras-Redonnet M
|
34518036 |
2021 |
| 24 |
Acral peeling skin syndrome resulting from a novel homozygous mutation in the CSTA gene-A report of two cases.
62
|
Sarika GM...Molho-Pessach V
|
34713485 |
2021 |
| 25 |
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
62
|
Warshauer EM...Roop DR
|
34435747 |
2021 |
| 26 |
Lipoid Proteinosis (Urbach-Wiethe Disease): A Rare Genodermatosis with Characteristic Dermatological and Neuroimaging Findings.
62
|
Chatterjee A...Sinha S
|
35002137 |
2021 |
| 27 |
Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.
62
|
Demir FT...Buyukbabani N
|
35068533 |
2021 |
| 28 |
Are the kidneys involved in lipoid proteinosis? Study of 22 patients.
62
|
Yilmaz K...Sahutoglu T
|
33999483 |
2021 |
| 29 |
Netherton Syndrome: Case Report and Review of the Literature.
62
|
Herz-Ruelas ME...Kubelis-Lopez DE
|
34604321 |
2021 |
| 30 |
Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients.
62
|
Yukkaldiran A...Erdogan O
|
33174327 |
2021 |
| 31 |
Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review.
62
|
Baykal C...Buyukbabani N
|
33569789 |
2021 |
| 32 |
Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care.
62
|
Marro M...Chiaverini C
|
34116697 |
2021 |
| 33 |
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.
62
|
Liu JW...Zhang X
|
34028087 |
2021 |
| 34 |
Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors.
62
|
Joshi TP...Tschen J
|
34249550 |
2021 |
| 35 |
Darier's Disease Flare following COVID-19 Vaccine.
62
|
Elbak MV...Jemec GBE
|
34594203 |
2021 |
| 36 |
PLACK syndrome is potentially treatable with intralipids.
62
|
Sawan ZA...Abanemai M
|
33410500 |
2021 |
| 37 |
Deep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family.
62
|
Pan C...Li M
|
33818390 |
2021 |
| 38 |
Epidermodysplasia verruciformis: report of two patients with autosomal dominant inheritance.
62
|
Miotto IZ...De Oliveira WRP
|
33818984 |
2021 |
| 39 |
Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis.
62
|
Zhu T...Yang T
|
33159951 |
2021 |
| 40 |
Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families.
62
|
Wang R...Zhang X
|
34386043 |
2021 |
| 41 |
Validity of First-Time Diagnoses of Darier's Disease in the Danish National Patient Registry.
62
|
Dorf ILH...Koppelhus U
|
34795531 |
2021 |
| 42 |
KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.
62
|
Bettoli V...Corazza M
|
33614714 |
2021 |
| 43 |
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.
62
|
Chayed Z...Bygum A
|
33461594 |
2021 |
| 44 |
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
62
|
Caroppo F...Belloni Fortina A
|
33363884 |
2020 |
| 45 |
Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.
62
|
Del Mar M...Phadke P
|
33488918 |
2020 |
| 46 |
Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.
62
|
Lopez-Ramirez S...Zenteno JC
|
33262542 |
2020 |
| 47 |
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
62
|
Fioretti T...Esposito G
|
33255364 |
2020 |
| 48 |
Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
62
|
Batista M...Ramos L
|
33147667 |
2020 |
| 49 |
Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.
62
|
Liu J...Hu X
|
32662074 |
2020 |
| 50 |
H syndrome: A rare genodermatosis.
62
|
An I...Ibiloglu I
|
32585061 |
2020 |
