✦ LIBER ✦

Dyskeratosis congenita with linear areas of severe cutaneous involvement

✍ Scribed by Baselga, Eulalia; Drolet, Beth A.; van Tuinen, Peter; Esterly, Nancy B.; Happle, Rudolf

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980217)75:5<492::aid-ajmg7>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.

📜 SIMILAR VOLUMES

Dyskeratosis congenita: An autosomal rec

Dyskeratosis congenita: An autosomal recessive variant

✍ Elliott, Alison M.; Graham, Gail E.; Bernstein, Mark; Mazer, Bruce; Teebi, Ahmad 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessive

Severe congenital anomalies requiring tr

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

✍ Ewart-Toland, Amanda; Enns, Gregory M.; Cox, Victoria A.; Mohan, G. Chandra; Ros 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenital heart defects, limb and skeletal anomalies, and short stature. Renal anomalies have been reported in a few cases of KS, but to our knowledge, hepatic anomalies ha

Cutaneous mosaicism of lethal mutations

✍ Hamm, Henning 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 1 views

The concept of autosomal lethal genes surviving only in a mosaic state was proposed by Happle to explain the genetic basis of several syndromes characterized by (almost always) sporadic occurrence, distribution of lesions in a scattered or asymmetrical pattern, variable extent of involvement, lack o

An autosomal dominant or X-linked osteod

An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement

✍ Robertson, Stephen P.; Dickens, Robert; Savarirayan, Ravi; Rogers, John G. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

A disorder affecting bone and cartilage growth is described in a mother and her 3-year-old son. A dysplastic process involving the vertebral bodies, most pronounced in the cervical region and leading to cervical dislocation in the first of these two patients, is the most significant complication of

Never Ever

✍ Ellison, Lia 📂 Fiction 📅 2019 🏛 Lia Ellison 🌐 English ⚖ 97 KB 👁 3 views

Veronica may have gotten her freedom back, but danger is lurking around every corner and she's not safe. Still, she refuses to run, even if that means she'll have to get deeper into Aiden's world...

Never Evers

✍ Lucy Ivison 📂 Fiction 📅 2015 🏛 Chicken House 🌐 en-US ⚖ 331 KB 👁 1 views

Kicked out of ballet academy and straight into a school ski trip, Mouse knows certain classmates can't wait to see her fall flat on her face. Meanwhile, Jack looks forward to danger and girls, but hasn't a clue about either. That's until French teen sensation Roland arrives in the resort--who Jack's