Ectodermal dysplasias: a clinical classification and a causal review
M Pinheiro, N Freire‐Maia - American journal of medical …, 1994 - Wiley Online Library
We present a causal review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical
subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of …
subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of …
Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes
SM Taibjee, DC Bennett, C Moss - British Journal of …, 2004 - academic.oup.com
There is increasing evidence that hypomelanosis of Ito and related disorders such as linear
and whorled naevoid hypermelanosis are due to mosaicism for a variety of chromosomal …
and whorled naevoid hypermelanosis are due to mosaicism for a variety of chromosomal …
Hypomelanosis of ITO. A study of 76 infantile cases
I Pascual-Castroviejo, C Roche… - Brain and …, 1998 - Elsevier
We show the complications observed in a large series of children with hypomelanosis of Ito
(HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of …
(HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of …
Pigmentary mosaicism: a review of original literature and recommendations for future handling
AB Kromann, LB Ousager, IKM Ali, N Aydemir… - Orphanet journal of rare …, 2018 - Springer
Background Pigmentary mosaicism is a term that describes varied patterns of pigmentation
in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of …
in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of …
Pigmentary disorders of the eyes and skin
SKT Que, G Weston, J Suchecki, J Ricketts - Clinics in dermatology, 2015 - Elsevier
Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1,
dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and …
dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and …
Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature
K Assogba, E Ferlazzo, P Striano, T Calarese… - Neurological …, 2010 - Springer
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental
retardation and epilepsy. We report on four new HI patients presenting with heterogeneous …
retardation and epilepsy. We report on four new HI patients presenting with heterogeneous …
Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review
J Steiner, C Adamsbaum, I Desguerres, G Lalande… - Pediatric …, 1996 - Springer
We report the results of a 14-year retrospective study of brain MRI abnormalities in 12
pediatric patients presenting with hypomelanosis of Ito (HI). Miscellaneous brain …
pediatric patients presenting with hypomelanosis of Ito (HI). Miscellaneous brain …
Linear hypopigmentation and hyperpigmentation, including mosaicism.
CA Loomis - Seminars in Cutaneous Medicine and Surgery, 1997 - europepmc.org
Linear streaks of hypopigmentation or hyperpigmentation along Blaschko's lines are
currently grouped under the names hypomelanosis of Ito (HI) and linear and whorled …
currently grouped under the names hypomelanosis of Ito (HI) and linear and whorled …
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)
M Mekkawy, A Kamel, M El‐Ruby… - American Journal of …, 2012 - Wiley Online Library
Isodicentric chromosome formation is the most common structural abnormality of the Y
chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell …
chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell …
Linear and whorled pigmentation.
J Harre, LE Millikan - International journal of dermatology, 1994 - search.ebscohost.com
The differential diagnosis of linear and whorled dermatoses can be confusing. Whereas,
when a well-defined group of diseases exhibit whorled pigmentation following Blaschko's …
when a well-defined group of diseases exhibit whorled pigmentation following Blaschko's …