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Synonyms: ichthyosis hystrix gravior, epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma, Lambert type ichthyosis
What is ichthyosis hystrix?
Ichthyosis hystrix is used to describe several rare ichthyosis skin disorders and is characterised by massive hyperkeratosis with an appearance like spiny scales.
The term has also been used to describe localised and linear warty epidermal nevi sometimes associated with mental retardation, seizures or skeletal anomalies. Alopecia, and hair and nail abnormalities as well as inner ear deafness are also seen.
The condition was first described in the Lambert family in England in the early 18th century..
The designation of epidermolytic hyperkeratosis is used for the condition that is also called bullous congenital ichthyosiform erythroderma when generalised and ichthyosis hystrix when localised. They are presumably separate entities. Most types of ichthyosis are hereditary rather than acquired.
Ichthyosis hystrix epidemiology
This is a rare condition of autosomal dominant inheritance, although sporadic cases do occur. Ichthyosis hystrix is not only a rare disorder but may also be clinically heterogeneous, even within the same family.
Ichthyosis hystrix symptoms (presentation)
It is apparent at birth or in the neonatal period as erythema with blistering affecting either a localised area of skin, or it can be more generalised. Blisters then heal with apparently normal skin but can recur. However, skin gradually becomes hyperkeratotic and scaly, particularly in flexures. Scales are hard and verruciform with parallel ridges running over the flexures, neck and hips. There is often a characteristic smell of rancid butter.
The whole body is affected, with the exception of the face, genitals, palms and soles.
There are about 25 different forms of ichthyosis and obviously the generalist will not be expected to recognise each. Differing features include age at onset, the appearance of the skin, areas that may be affected or spared including flexures, palms, soles and face. The family history may also be indicative. Skin biopsy may be helpful. There may be features that are not dermatological that point to a specific syndrome.
The most common form of ichthyosis is ichthyosis vulgaris.
- Biopsy and electron microscopy may be useful in the early diagnosis of genetic disorders. Skin biopsy shows characteristic changes.
- Analysis of cellular DNA.
Ichthyosis hystrix treatment and management
There is no specific treatment for ichthyosis hystrix. Treatment consists of symptomatic therapy for complications and cosmetic purposes. Topical retinoids, usually tretinoin, may be beneficial. Etretinate may be effective.
Hydration of the skin and application of an ointment to prevent evaporation:
- Lactic, glycolic and pyruvic acids are effective for hydrating the skin. Lactic acid is available as a 5% proprietary preparation. Twice-daily applications have been shown to be superior to petroleum-based creams for control of ichthyosis.
- Removal of scales can be aided by keratolytics such as salicylic acid.
- Proprietary products often contain urea or propylene glycol. Moisturisers containing urea in lower strengths such as 10 or 20%, produce a more pliable stratum corneum by their hydratant action.
- Propylene glycol draws water through the stratum corneum by establishing a water gradient. Thick skin is then shed following hydration.
- Topical retinoids, usually tretinoin, may be beneficial. A good result with etretinate is reported.
- Ichthyosis does not respond to steroids, but a mild topical steroid may be useful for pruritus.
This is a visible and unsightly condition that affects children and adolescents too. Hence they are likely to be cruelly teased and will lack confidence in amorous encounters.
There does not appear to be any prenatal test that can be employed. As it is a dominant condition, presumably one parent is affected. The literature seems to make no reference to limited penetrance. There will be a 1 in 2 chance of any children being affected.
Further reading and references
Foundation for ichthyosis and related skin types; Learning resource
Nayak S, Acharjya B, Mohanty P; Ichthyosis hystrix. Indian Dermatol Online J. 2013 Jan4(1):47-9. doi: 10.4103/2229-5178.105483.
Knight LK, McGrath J, Ozoemena L, et al; A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter. JAAD Case Rep. 2023 Mar 735:22-24. doi: 10.1016/j.jdcr.2023.02.015. eCollection 2023 May.
Ichthyosis; Primary Care Dermatology Society.
Epidermolytic Hyperkeratosis (EHK); Foundation for Ichthyosis and Related Skin Types (FIRST).
Nychay SG, Khorenian SD, Schwartz RA, et al; Epidermolytic hyperkeratosis treated with etretinate. Cutis. 1991 Apr
Makala za kitaaluma za kumbukumbu zimekusudiwa kutumiwa na wataalamu wa afya. Maagizo hayo yameandikwa na madaktari wa Uingereza na yanategemea ushahidi wa utafiti, Miongozo ya Uingereza na Ulaya. Unaweza kupata makala zetu za afya zenye manufaa zaidi. Matibabu ya karibu hali zote za matibabu yameathiriwa na janga la COVID-19. NICE imetoa miongozo ya haraka ya sasisho kuhusiana na mengi ya haya. Mwongozo huu unabadilika mara kwa mara. Tafadhali tembelea https: www.nice.org.uk COVID-19 ili uone ikiwa kuna mwongozo wa muda uliotolewa na NICE kuhusiana na usimamizi wa hali hii, ambayo inaweza kutofautiana na habari iliyotolewa hapa chini. Icthous hysterics (EHH) ni ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa. Ichthyosis hysterex ni ugonjwa wa ngozi wa kawaida unaoitwa ichthyosis na unaonekana kama vipande vya miiba. Neno hili pia limetumiwa kuelezea nevi ya epidermal ya kidonda na ya mstari wakati mwingine inayohusishwa na kushindwa kwa akili, mshtuko au kasoro za mifupa. Alopecia, na kasoro za nywele na kucha na vilevile kiziwi cha sikio la ndani huonekana pia. Hali hiyo ilielezwa kwa mara ya kwanza katika familia ya Lambert huko Uingereza mwanzoni mwa karne ya 18. Epidermolysis hyperkeratosis ni ugonjwa wa ugonjwa wa ngozi unaoitwa pia ugonjwa wa bullous congenital ichthyosiform erythroderma (BECE) na ichthyosis hystrix (IH). Yaelekea ni vitu tofauti. Aina nyingi za ichthyosis ni za urithi badala ya kupatikana. Ichthyosis hystrix epidemiology Hii ni hali nadra ya urithi wa autosomal dominant, ingawa kesi za mara kwa mara hutokea. Ichthyosis hystrix si ugonjwa wa nadra tu bali pia waweza kuwa na tofauti za kitiba, hata ndani ya familia moja. Icthous hysterectomy ni ugonjwa wa kuambukiza ambao huonekana wakati wa kuzaliwa au katika kipindi cha kuzaliwa kama erythema na blistering, ambayo huathiri eneo la ngozi, au inaweza kuwa ya jumla. Kisha vidonda hivyo hupona na ngozi inayoonekana kuwa ya kawaida lakini vinaweza kurudia. Hata hivyo, hatua kwa hatua ngozi huwa na nywele nyingi na huwa na magamba, hasa kwenye sehemu zilizopindika. Vipande ni ngumu na verruciform na mteremko sambamba mbio juu ya flexures, shingo na viuno. Mara nyingi kuna harufu ya siagi iliyochakaa. Mwili wote huathiriwa, isipokuwa uso, viungo vya uzazi, mikono na miguu. Kuna aina 25 za ichthyosis, na kwa kawaida mtu hawezi kutambua kila moja. Madhara ya ugonjwa huu ni pamoja na umri wa mwanzo, muonekano wa ngozi, maeneo ambayo yanaweza kuathiriwa au kuokolewa, ikiwa ni pamoja na flexures, mikono, miguu na uso. Historia ya familia yaweza pia kuwa yenye kuonyesha jambo hilo. Uchunguzi wa ngozi waweza kusaidia. Huenda kukawa na sifa zisizo za ngozi ambazo huonyesha ugonjwa fulani hususa. Aina ya kawaida ya ichthyosis ni ichthyosis vulgaris. - Biopsy na microscopy ya elektroni inaweza kuwa na manufaa katika utambuzi wa mapema wa magonjwa ya urithi. Biopsia ya ngozi huonyesha mabadiliko ya kipekee. - Uchambuzi wa DNA ya chembe. Matibabu ya ichthyosis hystrix na usimamizi Hakuna matibabu maalum kwa ichthyosis hystrix. Matibabu ni matibabu ya dalili kwa ajili ya matatizo na madhumuni ya urembo. Retinoids za mahali, kwa kawaida tretinoin, zaweza kuwa zenye manufaa. Etretinate inaweza kuwa na matokeo. Hydration ya ngozi na matumizi ya mafuta ya kuzuia evaporation: - Lactic, glycolic na pyruvic asidi ni ufanisi kwa hydrating ngozi. Asidi ya maziwa inapatikana kama maandalizi ya utajiri wa 5%. Matumizi ya mara mbili kwa siku yameonyeshwa kuwa bora kuliko krimu za mafuta ya mafuta kwa udhibiti wa ichthyosis. - Kuondolewa kwa magamba kunaweza kusaidiwa na keratolytics kama vile asidi salicylic. - Mara nyingi bidhaa za kipekee huwa na urea au propylene glycol. Moisturizers zenye urea katika nguvu ya chini kama vile 10 au 20%, kuzalisha stratum corneum zaidi pliable na hatua yao hydratant. - Propylene glycol huvuta maji kupitia stratum corneum kwa kuanzisha gradient ya maji. Kisha ngozi nzito huondolewa baada ya kunyonya maji. - Retinoids za mahali, kwa kawaida tretinoin, zinaweza kuwa na manufaa. Matokeo mazuri na etretinate yanaripotiwa. - Ichthyosis haijibu steroids, lakini steroid laini ya mahali inaweza kuwa na manufaa kwa pruritus. Hii ni hali inayoonekana na isiyo ya kupendeza ambayo huathiri watoto na matineja pia. Kwa hiyo huenda wakadhihakiwa kikatili na hawatakuwa na uhakika katika mahusiano ya kimapenzi. Haionekani kuwa kuna mtihani wowote wa kabla ya kuzaliwa ambao waweza kutumiwa. Kwa kuwa ni hali yenye kutawala, yaelekea mzazi mmoja ndiye aliyeathiriwa. Inaonekana kwamba maandishi hayo hayataji kwamba kuna uwezo mdogo wa kupenya. Kuna uwezekano wa 1 kwa 2 kwa watoto wote kuathiriwa. Kwa maelezo zaidi, tazama: Uchunguzi wa Ictus na Aina za Ngozi zinazohusiana; Naik S, Acharya B, Mohanty P; Ichthyosis hystrix. Indian Dermatol Online J. "Jana, Januari, 2013: ""Mimi ni mpenzi wa "" (Jana, Januari, 2013: ""Mimi ni mpenzi wa "" (Jana, Januari, 2013: ""Mimi ni mpenzi wa "")." "Knight, McGrath, J. O'Zeeuwena, L. et al. ""Keratin 10 - aina mpya ya heterogenous frameshift katika keratin 10 - inayosababisha ichthyosis hysterectomy katika baba na binti.""" JADI (Jadi ya Mawasiliano ya Kiuchumi) (Marko 735: 22-24, 10.10.1016 j.j.d.cr.2023.02.05) E-Collection 2023 Ichthyosis; Jamii ya Utunzaji wa Kwanza wa Dermatolojia. Epidermolysis Hyperkeratosis (EHK) - Foundation kwa ajili ya Ichthyosis na Aina ya ngozi zinazohusiana (FIRST) N. Khoren, S. R. Schwartz, et al. Epidermolysis hyperkeratosis ya matibabu ya etretinate. Cutis. Aprili 1991