Results 1 to 10 of about 2,604 (154)

The H Syndrome: A Genodermatosis [PDF]

Cureus, 2018
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/
Uzair Yaqoob
exaly   +3 more sources

Pachyonychia congenita: A rare genodermatosis

Indian Dermatology Online Journal, 2013
Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female
Puneet Agarwal, Mahendra K Chhaperwal, Apurva Singh, Arvind Verma, Manisha Nijhawan, Kishore Singh, Dinesh Mathur   +6 more
doaj   +3 more sources

A Rare Genodermatosis: Lipoid Proteinosis

Cerrahpaşa Medical Journal, 2021
Lipoid proteinosis is a rare genodermatosis that manifests with hoarseness and cutaneous findings. Its skin manifestations start with vesicles during the neonatal period, later scar formation and lichenification are observed.
Defne Özkoca, Batuhan Tozakoğlu, Tuğba Kevser Uzunçakmak, Zekayi Kutlubay   +3 more
doaj   +3 more sources

Incontinentia pigmenti: genodermatosis multisistémica [PDF]

Boletín Médico Del Hospital Infantil De México, 2020
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...

exaly   +2 more sources

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +2 more sources

KID syndrome: A rare genodermatosis

Indian Dermatology Online Journal, 2020
Vivek Kumar Dey, Animesh Saxena, Shrini Parikh   +2 more
doaj   +3 more sources

Netherton syndrome: A rare genodermatosis

Indian Dermatology Online Journal, 2011
Vivek Kumar Dey
doaj   +3 more sources

Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum? [PDF]

Acta Dermato-Venereologica
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) or with migratory circinate erythema (EBS-MCE) are rare clinical subtypes, typically associated with KRT5 pathogenic variants. A clinical and molecular analysis was conducted on 49 patients
Laura E. Valinotto, Mónica Natale, Silvina B. Lusso, Luz Velazquez Perdomo, Agustín Izquierdo, Romina Andrada, Eliana Cella, Juana Goitia, Maria del Carmen Boente, Maria I. Prado, Silvina de Freijo, Graciela Manzur   +11 more
doaj   +2 more sources

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant [PDF]

Acta Dermato-Venereologica
Andrea Diociaiuti, Emanuele Bellacchio, Claudia Cesario, Sabrina Rossi, Giovanna Zambruno, May El Hachem   +5 more
doaj   +2 more sources

Can You Identify the Genodermatosis?

Actas Dermo-sifiliográficas, 2015
R, Santesteban Muruzábal, M, Hervella Garcés, C, Ros Martín   +2 more
exaly   +3 more sources