|Year : 2019 | Volume
| Issue : 2 | Page : 82-85
Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity
Ayushi Lodha, Shylaja Someshwar
Department of Dermatology, Venereology and Leprology, MGM Medical College, Navi Mumbai, Maharashtra, India
|Date of Web Publication||24-Jan-2020|
Dr. Shylaja Someshwar
Department of Dermatology, Venereology and Leprology, MGM Medical College, Navi Mumbai - 410 209, Maharashtra
Source of Support: None, Conflict of Interest: None
Hypohidrotic ectodermal dysplasia (HED) is a rare disorder which is characterized by the involvement of all ectodermal derivatives and marked deficiency of sweating. It has a prevalence of 1: 100,000. X-linked recessive fashion is the most common pattern of inheritance, and 90% of the individuals affected are males. Autosomal dominant and recessive forms of this disease are very rare. Here, a 24-year-old female presented with classical features of HED: sparse lusterless hair, everted lips, and artificial dentures with a history of hypodontia in childhood. Patient's niece had complaints of decreased hair growth and sweating since birth. The patient also gave a history of similar complaints in great grandmother. Hence, we present an uncommon scenario where three females of an extended family were affected with HED and had symptoms of varying severity.
Keywords: Autosomal recessive, hypohidrotic ectodermal dysplasia, X-linked
|How to cite this article:|
Lodha A, Someshwar S. Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity. Muller J Med Sci Res 2019;10:82-5
|How to cite this URL:|
Lodha A, Someshwar S. Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity. Muller J Med Sci Res [serial online] 2019 [cited 2020 May 26];10:82-5. Available from: http://www.mjmsr.net/text.asp?2019/10/2/82/276691
| Introduction|| |
Hypohidrotic ectodermal dysplasia (HED) is also known as Christ–Siemens–Touraine syndrome. It is a rare genetic disorder characterized by developmental dystrophies of ectodermal structures such as teeth, hair, and sweat glands. X-linked recessive, autosomal dominant, and autosomal recessive are the three forms of inheritance seen in this condition. X-linked recessive is the most common mode of inheritance. Patients usually present with hypodontia, hypotrichosis, and hypohidrosis. Here, we encountered an unusual scenario where three female members of an extended family were affected by HED and had symptoms of varying severity.
| Case Report|| |
A 24-year-old unmarried female (Case 1), born out of second-degree consanguineous marriage, came with complaints of sparse hair growth on the scalp and the body since childhood and inability to sweat since childhood. The patient was full-term normal vaginal delivery with low birth weight, born with absent hair over scalp and body, with inability to sweat and had a deformed temporary and permanent teeth with hypodontia. The patient got artificial dentures implanted at the age of 23 years for the same. There was no history of recurrent episodes of fever and seizures. The patient reported similar complaints in great grandmother and 8-year-old niece [Figure 1]. Both the patient and her 8-year-old niece (Case 2) were examined. Both of these cases showed sparse lusterless hair on scalp with no hair in the torso and extremities [Figure 2]a, [Figure 2]b, [Figure 2]c. In case 1, we observed everted lower lips, artificial dentures [Figure 2]e, hyperpigmentation around the eyes, reduced lateral side of eyebrows, and prominent forehead [Figure 2]f, whereas in case 2; absent eyebrows, reduced broken eyelashes, dry skin, everted lip, and normal oral cavity were noted [Figure 3]a, [Figure 3]b, [Figure 3]c. There were breast hypoplasia [Figure 2]d and reduced axillary hair growth in case 1, and this was unappreciable in case 2, as the patient had not crossed puberty. Both the cases were thoroughly investigated with complete blood count, serum ferritin, and thyroid function tests which were normal. Starch iodine test was performed in both the cases and was compared with control. It was mildly positive in case 1 as compared with control; however, the test was negative in case 2 indicating absent sweating [Figure 4]. Hair mount showed trichorrhexis nodosa in case 1 and broken light colored hair in case 2 [Figure 5]c and [Figure 5]d. A 4-mm punch biopsy was taken from the left forearm of case 1. Examination with hematoxylin and eosin stain revealed thin flat epidermis and flattening of the rete ridges. No hair follicles and sweat glands were seen. Trichoscopy showed follicular units with single hair suggestive of hypotrichosis in both our cases. Hair shaft revealed diverse pigmentation from gray to black in case 1, and multiple broken hairs were noted in case 2 [Figure 5]a and [Figure 5]b. We reached our final diagnosis of HED with autosomal recessive trait. Both the cases were managed conservatively.
|Figure 2: Case 1: (a and b) Sparse hair on scalp. (c) Absent hair on extremities. (d) Breast hypolplasia. (e) Oral cavity without dentures. (f) Everted lip, reduced lateral side of eyebrows, and prominent forehead|
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|Figure 3: Case 2: (a) Decrease hair on scalp, everted lip. (b) No hair on extremities. (c) Absent eyebrows and reduced broken eyelashes|
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|Figure 4: (a) Case 1 Starch iodine test mildly positive in case 1 (blue arrow). (b) Absent sweating in Case 2 (blue arrow)|
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|Figure 5: (a) Case 1 - Trichoscopy shows hypotrichosis, hair shaft showing diverse pigmentation from gray to black. (b) Case 2 - Trichoscopy shows hypotrichosis and broken hair. (c) Case 1 - Light microscopy shows trichorrhexis nodosa. (d) Case 2 - Light microscopy shows broken light-colored hair|
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| Discussion|| |
HED was first described by Thurnam with a prevalence of 1:100,000. There are three forms of inheritance in HED: X-linked recessive, autosomal dominant, or autosomal recessive manner. X-linked recessive is the most common pattern accounting for approximately 95% of HED. It is usually observed in males and is passed through female carriers. The remainder 5% can be autosomal dominant and recessive forms.
X-linked recessive HED is caused due to mutation of the gene encoding ligand ectodysplasin A (EDA). In contrast, mutations in the genes encoding the EDA receptor cause autosomal dominant form, and less frequently adaptor protein mutation results in autosomal recessive forms of HED. The complete syndrome does not occur in females, but the affected female may show dental defects, sparse hair, and reduced sweating. Clinical manifestations are highly variable between individuals. Some have slight subjective heat intolerance; however, reduced to absent sweat glands is a characteristic feature.
Clinically, HED is characterized by absent or sparse eccrine glands, hypotrichosis, and hypodontia with conical or peg-shaped teeth. Both deciduous and permanent teeth get affected characteristically involving incisors and/or canines. As patients cannot generate sweat have tendency to develop hyperthermia with physical exertion or on exposure to a warm environment. The scalp hair, eyebrows, and eyelashes are sparse, thin, slow-growing, and often lightly pigmented. Our patient had loss of eyebrows and eyelashes and sparse, thin scalp hair. Secondary sexual hair in the beard, pubic, and axillary regions may be reduced. Hair on the torso and extremities is usually not seen. Light and electron microscopy may show hair shaft defects such as twisting, pili canaliculi, and trichorrhexis nodosa. Additional cutaneous features of HED include periorbital hyperpigmentation and wrinkles, frontal bossing, and full everted lips as seen in our case too. Recurrent eczematous dermatitis due to dry skin, spock ears, saddle nose, and lack of dermal ridges on dermatoglyphics can be noted in some cases. Rakowska et al. performed trichoscopy in patients with ectodermal dysplasia and found 69% patients to have hypotrichosis resulting from follicular units with single hair, followed by abnormalities of hair shaft pigmentation (gray hair with single dark hairs) in 56% cases.
Treatment is symptomatic management that involves oral rehabilitation, restorative procedures, and prevention of hyperthermia by maintaining cool ambient temperature.
It is important for the clinician to aptly congregate all of the presented signs and symptoms and makes an accurate diagnosis. Once diagnosed such patients need to be counseled regarding the possibility of transmission of the disease to the offspring. With advancement of technology, a good prenatal assessment can be made, and the possible consequences with continuation of pregnancy can be determined.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]