Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies

Abstract

These features lead unequivocally to the diagnosis of a stage IV IP skin lesion. Consequently, histology is a major confirmatory criterion for diagnoses of these mild clinical forms of IP. It is therefore a useful tool in genetic counselling and prenatal diagnosis. Moreover, the observations described here may contribute to understanding the physiopathology of the late stages of IP.

Incontinentia pigmenti and hypomelanosis of Ito

“…They classified IP criteria into two groups, negative family history and first-degree family history. The skin lesions are highly diagnostic (Landy and Donnai, 1993;Hadj-Rabia et al, 2003;Fraitag et al, 2009). In the majority of patients they occur as early as the first days after birth and during the neonatal period, or the first months of life.…”

“…It is sometimes the only manifestation of a misdiagnosed IP during this period of life and it is important to stress that their histological features are very helpful for IP diagnosis. We think that histology needs to be considered as a major diagnostic criterion for IP Stage 4 diagnosis (Fraitag et al, 2009). It is particularly important for genetic counseling and when molecular studies are not contributive, i.e., lack of common rearrangement of NEMO gene and of skewed X inactivation in women with suspected diagnosis.…”

Bloch-Sulzberger syndrome: a

“…Finally, the pigmentary stage demonstrates melanin, which is found in the dermis or engulfed by dermal macrophages. The study of Fraitag et al [19] revealed that most of the 26 biopsies in the late stage (IV) of IP showed a slight atrophy and some scattered apoptotic cells in the epidermis, epidermal hypopigmentation and a reduced melanocyte number, while the dermis appeared thickened and homogeneous and revealed a complete absence of hair follicles (23/26) and sweat glands (22/26). Furthermore, in the investigated biopsies there was no melanin incontinence or inflammatory cells, and the elastic network was normal.…”

Genome-Wide Association Study and Transcriptome Analysis Provide New Insights into the White/Red Earlobe Color Formation in Chicken

“…Hematoxylin Eosin (HE) staining and melanin masson-fontana staining are two classical methods widely utilized in skin histology [5, 6]. Of the potential factors involving skin color in animals or human, the melanin, which is produced by melanocytes in epidermal basal layer, can play important roles in influencing skin pigmentation via hyperpigmentation or hypopigmentation [6, 7].…”

“…Of the potential factors involving skin color in animals or human, the melanin, which is produced by melanocytes in epidermal basal layer, can play important roles in influencing skin pigmentation via hyperpigmentation or hypopigmentation [6, 7]. …”