Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page Small font size Default font size Increase font size Users Online: 253

 Table of Contents  
Year : 2018  |  Volume : 19  |  Issue : 4  |  Page : 335-338

Reticulate dyschromia, congenital atrichia and speech delay in a child: A diagnostic dilemma

1 Ellahi Medicare Clinic Srinagar, Kashmir, India
2 Department of Dermatology, STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Date of Web Publication28-Sep-2018

Correspondence Address:
Dr. Tasleem Arif
New Colony Soura, Near Water Supply Control Room, Srinagar - 190 011, Jammu and Kashmir
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_101_17

Rights and Permissions

Disorders of reticulate dyschromia can be diagnosed on the basis of the distribution and type of pigmentation in association with coexisting abnormalities. We describe a 4-year-old male child with reticulate dyschromia of the dorsal aspects of hands and feet and over the axillae, buttocks, and groins. The child had near complete absence of hair over body since birth. Skin-colored firm papules were present over dorsal aspects of hands and feet, and milestones were delayed for speech. We discuss the probable differentials in this article and why it fits none of the existing differentials.

Keywords: Atrichia, papules, reticulate dyschromia, speech delay

How to cite this article:
Arif T, Adil M, Amin SS. Reticulate dyschromia, congenital atrichia and speech delay in a child: A diagnostic dilemma. Indian J Paediatr Dermatol 2018;19:335-8

How to cite this URL:
Arif T, Adil M, Amin SS. Reticulate dyschromia, congenital atrichia and speech delay in a child: A diagnostic dilemma. Indian J Paediatr Dermatol [serial online] 2018 [cited 2021 Jun 23];19:335-8. Available from: https://www.ijpd.in/text.asp?2018/19/4/335/223317

  Introduction Top

A wide variety of genetic and acquired diseases may present with reticulate dyschromia. The extent and distribution of the pigmentation abnormality and the associated conditions help in the diagnosis of these conditions.[1] Atrichia is the term used for the rare diseases characterized by total or near complete absence of hair of the scalp and body.[2] Herein, we discuss an interesting case with features of reticulate dyschromia of the flexures and acral parts with atrichia, papules over the dorsal hands and feet, and delay in speech with normal teeth, nails, and sweating. In this article, the various possible differential diagnoses and points in favor and against each one of them have been discussed.

  Case Report Top

A 4-year-old male child presented to us with complaints of absence of all hair over body and delayed speech. The child was born with absence of hair over the body including those of the scalp, eyebrows, and eyelashes, and hair had never grown on his body. At 15 days of age, the mother noticed hypopigmented macules on the back of the hands. These progressed slowly over a span of 1 year to involve large surfaces of the body with prominent involvement of the hands and feet. The patient's parents informed that the child was a full-term normal delivery born after an uneventful antenatal period. He was a product of nonconsanguineous marriage. After birth, the child showed normal developmental milestones for motor activities and intelligence, but the speech got delayed. The child started speaking at 15 months of age and could not speak small sentences at his current age of 4 years. In total, he could speak around 10 words with disyllables. He was the only child, and there was no history of prior abortions or still births for the parents. There was no history of similar disease in any family member. There was no history of seizures, defects in vision or hearing, or mucosal abnormalities.

On examination, the child's weight and height were normal for age, and there was no microcephaly. There was near complete absence of all body hair and the eyelashes were sparse [Figure 1]. Reticulate dyschromia was present over the body particularly over the dorsal hands and feet, buttocks, inguinal and axillary areas extending towards abdomen, and thighs [Figure 2], [Figure 3], [Figure 4], [Figure 5]. Multiple skin-colored papules of firm consistency were present over the dorsal aspects of hands and feet [Figure 6]. The palms and soles showed no loss of dermatoglyphics or keratoderma. The nails and teeth were normal. Sweating as determined by the starch-iodine test was normal. Mucosal examination showed no abnormality. The systemic examination was unremarkable.
Figure 1: Near complete absence of hair on the scalp with absent eyebrows

Click here to view
Figure 2: Reticulate dyschromia involving axillary regions (a) left; (b) right

Click here to view
Figure 3: Confluent reticulate dyschromia involving inguinal region with extension of dyschromia over the abdomen and thighs

Click here to view
Figure 4: Reticulate dyschromia involving buttocks and thighs. At some places, the smaller hypopigmented macules have coalesced to form three larger ill-defined hypopigmented macules

Click here to view
Figure 5: Typical reticulate pigmentation present over dorsal aspects of feet

Click here to view
Figure 6: Multiple skin-colored papules present over the dorsal aspects of both hands

Click here to view

Routine investigations including complete blood counts and renal and liver function tests were normal. The histopathology from hypopigmented macule showed decrease in the epidermal melanin with normal number of melanocytes in an otherwise normal epidermis and dermis with no inflammatory infiltrate while the biopsy from hyperpigmented macule showed increase in pigment extending up to the stratum spinosum with dermis showing mild perivascular lymphohistiocytic infiltrate. Audiometric analysis showed no hearing loss. Genetic testing could not be done due to nonaffordability of the parents.

  Discussion Top

We report a case of congenital atrichia, reticulate dyschromia with papules over dorsal hands and feet, and speech delay. This constellation of signs and symptoms may mimic a variety of diseases yet do not fit in any of the possible differentials discussed in [Table 1].
Table 1: Differential diagnosis of our case and its comparison with other related disorders

Click here to view

Ectodermal dysplasias are a group of disorders primarily classified as hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia, depending on the presence or absence of sweating. Hidrotic ectodermal dysplasia or Clouston syndrome presents with hair loss, nail abnormalities, and palmoplantar keratoderma and in some cases hyperpigmentation.[3] Hypohidrotic ectodermal dysplasia or Christ–Siemens–Touraine syndrome is usually transmitted in an X-linked fashion or by autosomal dominant route and presents with absence of sweating, alopecia, and teeth abnormalities. There may be nail abnormalities but palmoplantar keratoderma is rare.[4] Our patient had atrichia and normal sweating but no nail or teeth abnormalities or palmoplantar keratoderma.

Dermatopathia pigmentosa reticularis is a rare autosomal dominant ectodermal dysplasia characterized by generalized reticulate hyperpigmentation, nail dystrophy, and alopecia, with or without palmoplantar keratoderma, acral blistering, and loss of dermatoglyphics.[5] Naegeli–Franceschetti–Jadassohn syndrome is a related disorder with similar features of reticulate hyperpigmentation and hypohidrosis but has severe involvement of the nails. Dyskeratosis congenita shows reticulate dyschromia of the neck and trunk with palmoplantar keratoderma, hyperhidrosis of palms and soles, thinned out sparse hair, oral leukokeratosis, nail dystrophy, and hypogonadism.[6]

Acromelanosis albo-punctata is a very rare disease that presents with confetti-like hypopigmented macules on the dorsum of hands and feet like our patient, but the other manifestations seen in our patient have not been described in this disease.[7] Dyschromatosis ptychotropica is an extremely rare entity which shows reticulate pigmentation of the flexures, encephalopathy, and intellectual disability.[8] Dowling-Degos disease presents late in adulthood and shows gradually progressive and symmetrical reticulate hyperpigmentation of the flexures and comedone-like papules over the back. Reticulate acropigmentation of Kitamura is characterized by hyperpigmented spots over the distal extremities and palmar pits. Dyschromatosis universalis hereditaria presents with universal mottled hyper- and hypo-pigmentation that begins on the hands and pterygium of the nails. Dyschromatosis symmetrica hereditaria or acropigmentation of Dohi is a distinct entity characterized by nonprogressive nature of hyper- and hypo-pigmented macules on the distal extremities.[9] None of the above disorders with reticulate pigmentation came under the constellation of findings of our case.

Atrichia with papular lesions is an entity with irreversible nonscarring alopecia and formation of multiple keratin cysts over the body. However, reticulate pigmented lesions have not been described in this disease.[10]

  Conclusion Top

our case was unique in that it presented with congenital atrichia and reticulate dyschromia of the dorsal aspect of the distal extremities and flexures and speech delay. Such a presentation has not yet been reported in any of the above-discussed conditions. We were not able to arrive at any particular diagnosis despite our best efforts. This might be a hitherto unknown manifestation of one of these diseases, two coexisting conditions or a new disease entity in itself. Genetic testing could have helped us but due to economic constraints was not done. We present this case for the diagnostic dilemma it presented to us and to encourage discussion.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.


We are thankful to the family of our patient for their support and cooperation.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Sardana K, Goel K, Chugh S. Reticulate pigmentary disorders. Indian J Dermatol Venereol Leprol 2013;79:17-29.  Back to cited text no. 1
[PUBMED]  [Full text]  
Sprecher E. Inherited hair disorders. In: Griffiths CE, Barker J, Bleiker T, Chalmers R, Creamer D, editors. Rook's Textbook of Dermatology. 9th ed. West Sussex (UK): Wiley Blackwell; 2016. p. 68.1-24.  Back to cited text no. 2
García-Martín P, Hernández-Martín A, Torrelo A. Ectodermal dysplasias: A clinical and molecular review. Actas Dermosifiliogr 2013;104:451-70.  Back to cited text no. 3
Anoop TM, Simi PN, Mini M, Ramachandran M, Jabbar PK, Rajkumari PK. Hypohidrotic ectodermal dysplasia. J Assoc Physicians India 2008;56:268-70.  Back to cited text no. 4
Al Saif F. Dermatopathia pigmentosa reticularis: Report of a new cases and literature review. Indian J Dermatol 2016;61:468.  Back to cited text no. 5
[PUBMED]  [Full text]  
Shanker V, Gupta M. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. Indian Dermatol Online J 2013;4:40-2.  Back to cited text no. 6
[PUBMED]  [Full text]  
Arnold AW, Kern JS, Itin PH, Pigors M, Happle R, Has C, et al. Acromelanosis albo-punctata: A distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement. Dermatology 2012;224:331-9.  Back to cited text no. 7
Helbig I, Fölster-Holst R, Brasch J, Hausser I, van Baalen A, Muhle H, et al. Dyschromatosis ptychotropica: An unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system – A novel entity? Eur J Pediatr 2010;169:495-500.  Back to cited text no. 8
Esterly NB, Basalge E. Genetic epidermal syndromes: Disorders characterized by reticulated hyperpigmentation. In: Nordlund JJ, editor. The Pigmentary System: Physiology and Pathophysiology. 2nd ed. United States: Blackwell Science; 2006. p. 780-8.  Back to cited text no. 9
Bansal M, Manchanda K, Lamba S, Pandey S. Atrichia with papular lesions. Int J Trichology 2011;3:112-4.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

  [Table 1]


Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  In this article
Case Report
Article Figures
Article Tables

 Article Access Statistics
    PDF Downloaded158    
    Comments [Add]    

Recommend this journal