Icon	Function
💬	A pop-up explanation appears when you mouse-over the text beside this icon. Also, an explanation window appears when you click this icon.
	The links beside this icon are links to external sites.
	Clicking this icon sorts the table by the item with this icon (Numerical or alphabetical order). Each click toggles between ascending and descending order.
	A text longer than 100 characters is fully displayed or collapsed.
	The contents of the displayed table are downloaded as a file named "table.csv".

DR info

Clinical trials : 63 / Drugs : 93 - (DrugBank : 22) / Drug target genes : 21 - Drug target pathways : 144

Other names

Disease group

Skin and connective tissue diseases

Domestic patients
Med expenses recipients, FY2024 (corrected) (in Japanese)

108 patients

Age distribution

💬

Clinical research form (in Japanese)
MHLW Intractable Diseases, FY2026 (in Japanese)

Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf)

Specific pediatric chronic diseases, Japan (in Japanese)

Sub-diseases
(Clinical research forms may not be available for all sub-diseases.)

No.

Name

Specific pediatric chronic diseases, Japan (in Japanese)

160-1.

Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;

14-2-2. keratinopathic ichthyosis (including epidermolytic ichthyosis and superficial epidermolytic ichthyos

160-2.

Harlequin ichthyosis;

14-2-4. harlequin ichthyosis

160-3.

Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;

14-2-3. autosomal recessive congenital ichthyosis (excluding harlequin ichthyosis)

160-4.

Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Austin syndrome;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;

8-6-94. Multiple sulfatase deficiency
14-2-5. Netherton syndrome
14-2-6. Sjögren-Larsson syndrome
14-2-7. Other congenital ichthyoses