Letters to the Editor
Monilethrix, a rare inherited hair shaft disorder in siblings Sir, The term monilethrix derives from both the Latin monile (necklace) and the Greek thrix (hair). The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla, and are the site of fracture.[1] Hair is normal at birth and is replaced with abnormal hair within first few months of life. The hair is beaded and fragile hair that tends to break at points of narrowing, thus leading to short, stubby hair, especially in the sites of friction such as the nape and occipital areas. Follicular keratosis of the affected scalp and keratosis pilaris are also typical. The severity of monilethrix considerably varies even among members of the same family and may range from an almost normal scalp, to total alopecia.[1,2]
In some cases, the eyebrows and eyelashes, pubic and axillary hair, and general body hair may be affected. It may also be associated with koilonychia and rarely, systemic disturbances such as mental and physical retardation, syndactyly, cataract, teeth, and nail anomalies.[3] An 8-year-old boy, born of a nonconsanguineous marriage, presented with diffuse hair loss after few months of birth. The boy was born at full term after an uncomplicated pregnancy. Hair was easily breakable and also there were tiny discrete lesions over the nape of neck and occipital area. His 10-year-old sister also had complaints of easy breakability of hair along with tiny papules over the nape of neck [Figure 1]. No other family member was having similar complaints. Macroscopic inspection of the scalp showed fine, short, and sparse hairs over the bilateral parietal and occipital region with no sign of scarring of the scalp skin, but hairs were easily breakable [Figures 2 and 3]. Follicular papules over the occipital and nape of neck region were favoring keratotic pilaris. Examination of occipital hairs by microscopy [Figure 4a and b] revealed elliptical nodes resulting in a beaded appearance of the hair shafts. Developmental examination found his cognitive status to be adequate for age without any signs of mental disorder. There was no nail, dental, or sweat gland abnormality
Figure 1: Sparse and short hairs over the occipital area of an 8-yearold boy. Both children having follicular papules over the nape of neck
Figure 2: Sparse and short hairs over bitemporoparietal region
a
Figure 3: Sparse and short hairs over bitemporoparietal region Indian Dermatology Online Journal - July-September 2014 - Volume 5 - Issue 3
b
Figure 4: (a and b) ×100 Microscopy of hair shows nodes and inter nodes at regular interval with absence of medulla in intermodal region (a: Boy, b: Girl)
339
Letters to the Editor
found after thorough physical examination in both children. Routine laboratory screenings was within range in both siblings. Monilethrix is generally considered to be an autosomal-dominant disorder with variable penetrance. It is caused by mutations of the genes encoding type 2 hair keratins, hHb1 and hHb6. It is mapped to epithelial keratin gene cluster on 12q11-q13. Defective keratins in cortical cells, leading to wrinkling of the cells at internodes and makes them fragile. While nodes represent normal growth.[4] Mutations have been found in desmoglein 4 in the autosomal-recessive form.[2] The variability of the monilethrix phenotype suggests that other factors also affect gene or disease expression. That was observed in our cases too, both siblings presented with variable severity of the same condition (the boy was affected more than his sister). Various treatment modalities such as griseofulvin, retinoids, topical 2% minoxidil, and oral N-acetyl cysteine[2,5] have shown temporary and reversible improvement in isolated cases. No effective treatment is currently available.
Rita V Vora, Gopikrishnan Anjaneyan, Malay J Mehta Department of Skin and Venereal Diseases, Pramukh Swami Medical College, Karamsad, Gujarat, India
Pseudokaposi’s sarcoma Sir, Pseudo-Kaposi’s sarcoma, also known as Acroangiodermatitis of Mali is a rare skin disease that can mimic Kaposi’s sarcoma both clinically and histopathologically. We present a case of pseudo-Kaposi’s sarcoma without clinical evidence of venous insufficiency but later detected by Doppler studies, and responded well to treatment with dapsone. The histological features were characteristic.
Address for correspondence: Dr. Rita V Vora, Department of Skin and Venereal Diseases, Pramukh Swami Medical College, Karamsad - 388 325, Gujarat, India. E-mail: [email protected]
REFERENCES 1. 2.
3. 4.
5.
Lencastre A, Tosti A. Monilethrix. J Pediatr 2012;161:1176. Messenger AG, Berker DA, Sinclair RD. Disorders of hair. In: Burns DA, Breathnach SM, Cox NH, Griffi CE, EditorS. Rook’s Textbook of Dermatology. 8th ed. Hoboken: Blackwell Publishing Ltd; 2010. p. 66.61-3. Sandhu K, Handa S, Kanwar AJ. Monilethrix. Indian J Dermatol 2002;47:169-70. Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ, Bickers DR. et al. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. Clin Exp Dermatol 2003;28:206-10. Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: A rare hereditary condition. Indian J Dermatol 2013;58:243. Access this article online Quick Response Code: Website: www.idoj.in DOI: 10.4103/2229-5178.137795
and chromoblastomycosis were considered. Complete blood count, abdominal ultrasonography, and chest radiography were normal. Mantoux test was negative. Enzyme-linked immunosorbent assay for human immunodeficiency virus was nonreactive. Skin biopsy showed moderate irregular epidermal hyperplasia with a thick compact orthokeratotic horny layer. The papillary dermis was markedly thickened and showed proliferation of numerous thick-walled capillaries along with numerous siderophages
A 23-year-old man presented with a nonhealing raised and exudative lesion of one year duration on the lateral aspect of the right leg. It started spontaneously as a small ulcer without any history of trauma and progressed for about 2 months to reach the present size [Figure 1]. The patient did not have pain or other symptoms. On examination, there was a single hyperpigmented, ill-defined plaque of 15 × 10 cm size on the lateral aspect of right leg. The surface was studded with small papular excrescences. The surrounding skin was normal. General and systemic examinations did not reveal any abnormalities. Differential diagnosis of Kaposi’s sarcoma
340
Figure 1: Hyperpigmented plaque on the lateral aspect of right leg showing papular excrescences
Indian Dermatology Online Journal - July-September 2014 - Volume 5 - Issue 3
Copyright of Indian Dermatology Online Journal is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Monilethrix, a rare inherited hair shaft disorder in siblings Sir, The term monilethrix derives from both the Latin monile (necklace) and the Greek thrix (hair). The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla, and are the site of fracture.[1] Hair is normal at birth and is replaced with abnormal hair within first few months of life. The hair is beaded and fragile hair that tends to break at points of narrowing, thus leading to short, stubby hair, especially in the sites of friction such as the nape and occipital areas. Follicular keratosis of the affected scalp and keratosis pilaris are also typical. The severity of monilethrix considerably varies even among members of the same family and may range from an almost normal scalp, to total alopecia.[1,2]
In some cases, the eyebrows and eyelashes, pubic and axillary hair, and general body hair may be affected. It may also be associated with koilonychia and rarely, systemic disturbances such as mental and physical retardation, syndactyly, cataract, teeth, and nail anomalies.[3] An 8-year-old boy, born of a nonconsanguineous marriage, presented with diffuse hair loss after few months of birth. The boy was born at full term after an uncomplicated pregnancy. Hair was easily breakable and also there were tiny discrete lesions over the nape of neck and occipital area. His 10-year-old sister also had complaints of easy breakability of hair along with tiny papules over the nape of neck [Figure 1]. No other family member was having similar complaints. Macroscopic inspection of the scalp showed fine, short, and sparse hairs over the bilateral parietal and occipital region with no sign of scarring of the scalp skin, but hairs were easily breakable [Figures 2 and 3]. Follicular papules over the occipital and nape of neck region were favoring keratotic pilaris. Examination of occipital hairs by microscopy [Figure 4a and b] revealed elliptical nodes resulting in a beaded appearance of the hair shafts. Developmental examination found his cognitive status to be adequate for age without any signs of mental disorder. There was no nail, dental, or sweat gland abnormality
Figure 1: Sparse and short hairs over the occipital area of an 8-yearold boy. Both children having follicular papules over the nape of neck
Figure 2: Sparse and short hairs over bitemporoparietal region
a
Figure 3: Sparse and short hairs over bitemporoparietal region Indian Dermatology Online Journal - July-September 2014 - Volume 5 - Issue 3
b
Figure 4: (a and b) ×100 Microscopy of hair shows nodes and inter nodes at regular interval with absence of medulla in intermodal region (a: Boy, b: Girl)
339
Letters to the Editor
found after thorough physical examination in both children. Routine laboratory screenings was within range in both siblings. Monilethrix is generally considered to be an autosomal-dominant disorder with variable penetrance. It is caused by mutations of the genes encoding type 2 hair keratins, hHb1 and hHb6. It is mapped to epithelial keratin gene cluster on 12q11-q13. Defective keratins in cortical cells, leading to wrinkling of the cells at internodes and makes them fragile. While nodes represent normal growth.[4] Mutations have been found in desmoglein 4 in the autosomal-recessive form.[2] The variability of the monilethrix phenotype suggests that other factors also affect gene or disease expression. That was observed in our cases too, both siblings presented with variable severity of the same condition (the boy was affected more than his sister). Various treatment modalities such as griseofulvin, retinoids, topical 2% minoxidil, and oral N-acetyl cysteine[2,5] have shown temporary and reversible improvement in isolated cases. No effective treatment is currently available.
Rita V Vora, Gopikrishnan Anjaneyan, Malay J Mehta Department of Skin and Venereal Diseases, Pramukh Swami Medical College, Karamsad, Gujarat, India
Pseudokaposi’s sarcoma Sir, Pseudo-Kaposi’s sarcoma, also known as Acroangiodermatitis of Mali is a rare skin disease that can mimic Kaposi’s sarcoma both clinically and histopathologically. We present a case of pseudo-Kaposi’s sarcoma without clinical evidence of venous insufficiency but later detected by Doppler studies, and responded well to treatment with dapsone. The histological features were characteristic.
Address for correspondence: Dr. Rita V Vora, Department of Skin and Venereal Diseases, Pramukh Swami Medical College, Karamsad - 388 325, Gujarat, India. E-mail: [email protected]
REFERENCES 1. 2.
3. 4.
5.
Lencastre A, Tosti A. Monilethrix. J Pediatr 2012;161:1176. Messenger AG, Berker DA, Sinclair RD. Disorders of hair. In: Burns DA, Breathnach SM, Cox NH, Griffi CE, EditorS. Rook’s Textbook of Dermatology. 8th ed. Hoboken: Blackwell Publishing Ltd; 2010. p. 66.61-3. Sandhu K, Handa S, Kanwar AJ. Monilethrix. Indian J Dermatol 2002;47:169-70. Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ, Bickers DR. et al. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. Clin Exp Dermatol 2003;28:206-10. Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: A rare hereditary condition. Indian J Dermatol 2013;58:243. Access this article online Quick Response Code: Website: www.idoj.in DOI: 10.4103/2229-5178.137795
and chromoblastomycosis were considered. Complete blood count, abdominal ultrasonography, and chest radiography were normal. Mantoux test was negative. Enzyme-linked immunosorbent assay for human immunodeficiency virus was nonreactive. Skin biopsy showed moderate irregular epidermal hyperplasia with a thick compact orthokeratotic horny layer. The papillary dermis was markedly thickened and showed proliferation of numerous thick-walled capillaries along with numerous siderophages
A 23-year-old man presented with a nonhealing raised and exudative lesion of one year duration on the lateral aspect of the right leg. It started spontaneously as a small ulcer without any history of trauma and progressed for about 2 months to reach the present size [Figure 1]. The patient did not have pain or other symptoms. On examination, there was a single hyperpigmented, ill-defined plaque of 15 × 10 cm size on the lateral aspect of right leg. The surface was studded with small papular excrescences. The surrounding skin was normal. General and systemic examinations did not reveal any abnormalities. Differential diagnosis of Kaposi’s sarcoma
340
Figure 1: Hyperpigmented plaque on the lateral aspect of right leg showing papular excrescences
Indian Dermatology Online Journal - July-September 2014 - Volume 5 - Issue 3
Copyright of Indian Dermatology Online Journal is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
