S1 guidelines for the diagnosis and treatment of ichthyoses – update

Abstract

Ichthyoses are a group of rare genetic skin disorders that pose numerous clinical challenges, in particular with respect to the correct diagnosis and appropriate management. The present update of the German ichthyosis guidelines addresses recent diagnostic advances that have resulted in the Sorèze consensus classification. In this context, we provide an updated diagnostic algorithm, taking into account clinical features as well as the molecular genetic basis of these disorders. Moreover, we highlight current therapeutic approaches such as psychosocial support, balneotherapy, mechanical scale removal, topical therapy, and systemic retinoid therapy. General aspects such as the indication for physical therapy, ergotherapy, or genetic counseling are also discussed. The present update was consented by an interdisciplinary consensus conference that included dermatologists, pediatricians, human geneticists, and natural scientists as well as representatives of the German patient support organization Selbsthilfe Ichthyose e. V.

Reticular hyperpigmentation on the trunk and flexures of the extremities in a 16‐year‐old boy

“…Clinical differential diagnoses include acanthosis nigricans, pityriasis versicolor, confl uent and reticulated papillomatosis (CRP), ichthyosis vulgaris and epidermal nevi [ 2,[4][5][6] . Differential diagnoses and distinctive features have previously been reported and discussed, but many dermatologists are not yet familiar with TFFD [ 4 ] .…”

Non‐invasive analysis of skin mechanical properties in patients with lamellar ichthyosis

“…For this study, 22 patients clinically diagnosed with lamellar ichthyosis from the same geographical region of the Veracruz State, Mexico, were recruited by the IMSS‐PROSPERA and the Medicine School of Universidad Veracruzana, Mexico. Inclusion criteria were based on clinical examinations, all patients had recessive inheritance pattern, and they fulfilled the criteria for the diagnosis of lamellar ichthyosis as defined by international guides . The study was approved by the Ethics and Investigation Committee of the Universidad Veracruzana, and signed informed consent was obtained from all studied patients prior to their participation in the study.…”

“…Inclusion criteria were based on clinical examinations, all patients had recessive inheritance pattern, and they fulfilled the criteria for the diagnosis of lamellar ichthyosis as defined by international guides. 2,10 The study was approved by the Ethics and Investigation Committee of the Universidad Veracruzana, and signed informed consent was obtained from all studied patients prior to their participation in the study. All procedures performed in this study were carried out according to the Code of Ethics of the Helsinki Declaration.…”

Guidance for assessment of erythroderma in neonates and infants for the pediatric immunologist

“…This heterogeneous group of Mendelian disorders of skin cornification comprises non‐syndromic ichthyoses with exclusively cutaneous symptoms and syndromic ichthyoses linked to metabolic, neurologic, ophthalmologic, or other abnormalities of varying severity. Comprehensive national and European guidelines of care for patients with congenital ichthyoses have only very recently been published …”